dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs2228145
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:154454494 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>C / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.334818 (88623/264690, TOPMED)C=0.379170 (94659/249648, GnomAD_exome)C=0.392909 (92604/235688, ALFA) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- IL6R : Missense Variant
- Publications
- 137 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 252824 | A=0.612118 | C=0.387882 | 0.37975 | 0.155515 | 0.464734 | 31 |
| European | Sub | 207880 | A=0.604137 | C=0.395863 | 0.365884 | 0.15761 | 0.476506 | 1 |
| African | Sub | 10614 | A=0.85350 | C=0.14650 | 0.735444 | 0.028453 | 0.236103 | 9 |
| African Others | Sub | 378 | A=0.913 | C=0.087 | 0.830688 | 0.005291 | 0.164021 | 0 |
| African American | Sub | 10236 | A=0.85131 | C=0.14869 | 0.731927 | 0.029308 | 0.238765 | 9 |
| Asian | Sub | 6674 | A=0.5920 | C=0.4080 | 0.351513 | 0.167516 | 0.480971 | 0 |
| East Asian | Sub | 4790 | A=0.5689 | C=0.4311 | 0.322756 | 0.184969 | 0.492276 | 0 |
| Other Asian | Sub | 1884 | A=0.6507 | C=0.3493 | 0.424628 | 0.123142 | 0.452229 | 0 |
| Latin American 1 | Sub | 886 | A=0.642 | C=0.358 | 0.408578 | 0.124153 | 0.467269 | 0 |
| Latin American 2 | Sub | 5288 | A=0.4435 | C=0.5565 | 0.198185 | 0.311271 | 0.490545 | 0 |
| South Asian | Sub | 330 | A=0.700 | C=0.300 | 0.490909 | 0.090909 | 0.418182 | 0 |
| Other | Sub | 21152 | A=0.61531 | C=0.38469 | 0.388899 | 0.158283 | 0.452818 | 11 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.665182 | C=0.334818 |
| gnomAD - Exomes | Global | Study-wide | 249648 | A=0.620830 | C=0.379170 |
| gnomAD - Exomes | European | Sub | 134226 | A=0.621146 | C=0.378854 |
| gnomAD - Exomes | Asian | Sub | 48756 | A=0.66540 | C=0.33460 |
| gnomAD - Exomes | American | Sub | 34318 | A=0.44973 | C=0.55027 |
| gnomAD - Exomes | African | Sub | 16194 | A=0.87057 | C=0.12943 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10044 | A=0.58781 | C=0.41219 |
| gnomAD - Exomes | Other | Sub | 6110 | A=0.6116 | C=0.3884 |
| Allele Frequency Aggregator | Total | Global | 235688 | A=0.607091 | C=0.392909 |
| Allele Frequency Aggregator | European | Sub | 196994 | A=0.604089 | C=0.395911 |
| Allele Frequency Aggregator | Other | Sub | 19684 | A=0.61385 | C=0.38615 |
| Allele Frequency Aggregator | Asian | Sub | 6674 | A=0.5920 | C=0.4080 |
| Allele Frequency Aggregator | African | Sub | 5832 | A=0.8407 | C=0.1593 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5288 | A=0.4435 | C=0.5565 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 886 | A=0.642 | C=0.358 |
| Allele Frequency Aggregator | South Asian | Sub | 330 | A=0.700 | C=0.300 |
| gnomAD - Genomes | Global | Study-wide | 139418 | A=0.682681 | C=0.317319 |
| gnomAD - Genomes | European | Sub | 75648 | A=0.62166 | C=0.37834 |
| gnomAD - Genomes | African | Sub | 41680 | A=0.86252 | C=0.13748 |
| gnomAD - Genomes | American | Sub | 13546 | A=0.50775 | C=0.49225 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | A=0.5913 | C=0.4087 |
| gnomAD - Genomes | East Asian | Sub | 3088 | A=0.6305 | C=0.3695 |
| gnomAD - Genomes | Other | Sub | 2136 | A=0.6615 | C=0.3385 |
| ExAC | Global | Study-wide | 117814 | A=0.624383 | C=0.375617 |
| ExAC | Europe | Sub | 71288 | A=0.60772 | C=0.39228 |
| ExAC | Asian | Sub | 24346 | A=0.66101 | C=0.33899 |
| ExAC | American | Sub | 11170 | A=0.43232 | C=0.56768 |
| ExAC | African | Sub | 10132 | A=0.86627 | C=0.13373 |
| ExAC | Other | Sub | 878 | A=0.614 | C=0.386 |
| The PAGE Study | Global | Study-wide | 78700 | A=0.67975 | C=0.32025 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.85198 | C=0.14802 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.47928 | C=0.52072 |
| The PAGE Study | Asian | Sub | 8318 | A=0.5995 | C=0.4005 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.6096 | C=0.3904 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.4343 | C=0.5657 |
| The PAGE Study | Cuban | Sub | 4228 | A=0.6213 | C=0.3787 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.7247 | C=0.2753 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.4849 | C=0.5151 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.4571 | C=0.5429 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.5762 | C=0.4238 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.710 | C=0.290 |
| 14KJPN | JAPANESE | Study-wide | 28256 | A=0.61824 | C=0.38176 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.61957 | C=0.38043 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.7086 | C=0.2914 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.9110 | C=0.0890 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6374 | C=0.3626 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.7063 | C=0.2937 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.6744 | C=0.3256 |
| 1000Genomes_30x | American | Sub | 980 | A=0.476 | C=0.524 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.7069 | C=0.2931 |
| 1000Genomes | African | Sub | 1322 | A=0.9130 | C=0.0870 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.6766 | C=0.3234 |
| 1000Genomes | Europe | Sub | 1006 | A=0.6402 | C=0.3598 |
| 1000Genomes | South Asian | Sub | 978 | A=0.700 | C=0.300 |
| 1000Genomes | American | Sub | 694 | A=0.464 | C=0.536 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.6623 | C=0.3377 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.5747 | C=0.4253 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.5763 | C=0.4237 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.5693 | C=0.4307 |
| HapMap | Global | Study-wide | 1890 | A=0.7423 | C=0.2577 |
| HapMap | American | Sub | 770 | A=0.657 | C=0.343 |
| HapMap | African | Sub | 692 | A=0.912 | C=0.088 |
| HapMap | Asian | Sub | 252 | A=0.627 | C=0.373 |
| HapMap | Europe | Sub | 176 | A=0.614 | C=0.386 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.5748 | C=0.4252 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.584 | C=0.416 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 784 | A=0.589 | C=0.411 |
| CNV burdens in cranial meningiomas | CRM | Sub | 784 | A=0.589 | C=0.411 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.663 | C=0.337 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.594 | C=0.406 |
| SGDP_PRJ | Global | Study-wide | 316 | A=0.367 | C=0.633 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.704 | C=0.296 |
| Qatari | Global | Study-wide | 216 | A=0.662 | C=0.338 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.60 | C=0.40 |
| Siberian | Global | Study-wide | 28 | A=0.43 | C=0.57 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.154454494A>C |
| GRCh38.p14 chr 1 | NC_000001.11:g.154454494A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.154426970A>C |
| GRCh37.p13 chr 1 | NC_000001.10:g.154426970A>T |
| IL6R RefSeqGene | NG_012087.1:g.54302A>C |
| IL6R RefSeqGene | NG_012087.1:g.54302A>T |
Gene: IL6R, interleukin 6 receptor
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| IL6R transcript variant 8 |
NM_001382773.1:c.1114+451… NM_001382773.1:c.1114+4514A>C |
N/A | Intron Variant |
| IL6R transcript variant 2 | NM_181359.3:c.1066+4514A>C | N/A | Intron Variant |
| IL6R transcript variant 3 | NM_001206866.2:c. | N/A | Genic Downstream Transcript Variant |
| IL6R transcript variant 1 | NM_000565.4:c.1073A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 1 precursor | NP_000556.1:p.Asp358Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 1 | NM_000565.4:c.1073A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 1 precursor | NP_000556.1:p.Asp358Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant 7 | NM_001382772.1:c.1067A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 7 precursor | NP_001369701.1:p.Asp356Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 7 | NM_001382772.1:c.1067A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 7 precursor | NP_001369701.1:p.Asp356Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant 6 | NM_001382771.1:c.1121A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 6 precursor | NP_001369700.1:p.Asp374Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 6 | NM_001382771.1:c.1121A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 6 precursor | NP_001369700.1:p.Asp374Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant 4 | NM_001382769.1:c.1172A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 4 precursor | NP_001369698.1:p.Asp391Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 4 | NM_001382769.1:c.1172A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 4 precursor | NP_001369698.1:p.Asp391Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant 5 | NM_001382770.1:c.1166A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 5 precursor | NP_001369699.1:p.Asp389Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 5 | NM_001382770.1:c.1166A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 5 precursor | NP_001369699.1:p.Asp389Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant 9 | NM_001382774.1:c.713A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 9 precursor | NP_001369703.1:p.Asp238Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant 9 | NM_001382774.1:c.713A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform 9 precursor | NP_001369703.1:p.Asp238Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant X8 |
XM_005245139.2:c.924+4514… XM_005245139.2:c.924+4514A>C |
N/A | Intron Variant |
| IL6R transcript variant X6 |
XM_047419655.1:c.972+4514… XM_047419655.1:c.972+4514A>C |
N/A | Intron Variant |
| IL6R transcript variant X1 | XM_017001199.2:c.1220A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X1 | XP_016856688.1:p.Asp407Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant X1 | XM_017001199.2:c.1220A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X1 | XP_016856688.1:p.Asp407Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant X2 | XM_047419648.1:c.1157A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X2 | XP_047275604.1:p.Asp386Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant X2 | XM_047419648.1:c.1157A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X2 | XP_047275604.1:p.Asp386Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant X3 | XM_047419649.1:c.1109A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X3 | XP_047275605.1:p.Asp370Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant X3 | XM_047419649.1:c.1109A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X3 | XP_047275605.1:p.Asp370Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant X4 | XM_047419650.1:c.1010A>C | D [GAT] > A [GCT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X4 | XP_047275606.1:p.Asp337Ala | D (Asp) > A (Ala) | Missense Variant |
| IL6R transcript variant X4 | XM_047419650.1:c.1010A>T | D [GAT] > V [GTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X4 | XP_047275606.1:p.Asp337Val | D (Asp) > V (Val) | Missense Variant |
| IL6R transcript variant X5 | XM_047419654.1:c.1078A>C | I [ATT] > L [CTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X5 | XP_047275610.1:p.Ile360Leu | I (Ile) > L (Leu) | Missense Variant |
| IL6R transcript variant X5 | XM_047419654.1:c.1078A>T | I [ATT] > F [TTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X5 | XP_047275610.1:p.Ile360Phe | I (Ile) > F (Phe) | Missense Variant |
| IL6R transcript variant X7 | XM_047419656.1:c.1030A>C | I [ATT] > L [CTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X7 | XP_047275612.1:p.Ile344Leu | I (Ile) > L (Leu) | Missense Variant |
| IL6R transcript variant X7 | XM_047419656.1:c.1030A>T | I [ATT] > F [TTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X7 | XP_047275612.1:p.Ile344Phe | I (Ile) > F (Phe) | Missense Variant |
| IL6R transcript variant X9 | XM_047419657.1:c.979A>C | I [ATT] > L [CTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X9 | XP_047275613.1:p.Ile327Leu | I (Ile) > L (Leu) | Missense Variant |
| IL6R transcript variant X9 | XM_047419657.1:c.979A>T | I [ATT] > F [TTT] | Coding Sequence Variant |
| interleukin-6 receptor subunit alpha isoform X9 | XP_047275613.1:p.Ile327Phe | I (Ile) > F (Phe) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: C (allele ID:
29699
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000015767.2 | Soluble interleukin-6 receptor, serum level of, quantitative trait locus | Association |
| RCV000029243.2 | Interleukin 6, serum level of, quantitative trait locus | Association |
| RCV001514924.4 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | T |
|---|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.154454494= | NC_000001.11:g.154454494A>C | NC_000001.11:g.154454494A>T |
| GRCh37.p13 chr 1 | NC_000001.10:g.154426970= | NC_000001.10:g.154426970A>C | NC_000001.10:g.154426970A>T |
| IL6R RefSeqGene | NG_012087.1:g.54302= | NG_012087.1:g.54302A>C | NG_012087.1:g.54302A>T |
| IL6R transcript variant 1 | NM_000565.4:c.1073= | NM_000565.4:c.1073A>C | NM_000565.4:c.1073A>T |
| IL6R transcript variant 1 | NM_000565.3:c.1073= | NM_000565.3:c.1073A>C | NM_000565.3:c.1073A>T |
| IL6R transcript variant 4 | NM_001382769.1:c.1172= | NM_001382769.1:c.1172A>C | NM_001382769.1:c.1172A>T |
| IL6R transcript variant 5 | NM_001382770.1:c.1166= | NM_001382770.1:c.1166A>C | NM_001382770.1:c.1166A>T |
| IL6R transcript variant 6 | NM_001382771.1:c.1121= | NM_001382771.1:c.1121A>C | NM_001382771.1:c.1121A>T |
| IL6R transcript variant 7 | NM_001382772.1:c.1067= | NM_001382772.1:c.1067A>C | NM_001382772.1:c.1067A>T |
| IL6R transcript variant 9 | NM_001382774.1:c.713= | NM_001382774.1:c.713A>C | NM_001382774.1:c.713A>T |
| IL6R transcript variant X1 | XM_017001199.2:c.1220= | XM_017001199.2:c.1220A>C | XM_017001199.2:c.1220A>T |
| IL6R transcript variant X1 | XM_017001199.1:c.1220= | XM_017001199.1:c.1220A>C | XM_017001199.1:c.1220A>T |
| IL6R transcript variant X2 | XM_047419648.1:c.1157= | XM_047419648.1:c.1157A>C | XM_047419648.1:c.1157A>T |
| IL6R transcript variant X3 | XM_047419649.1:c.1109= | XM_047419649.1:c.1109A>C | XM_047419649.1:c.1109A>T |
| IL6R transcript variant X4 | XM_047419650.1:c.1010= | XM_047419650.1:c.1010A>C | XM_047419650.1:c.1010A>T |
| IL6R transcript variant X5 | XM_047419654.1:c.1078= | XM_047419654.1:c.1078A>C | XM_047419654.1:c.1078A>T |
| IL6R transcript variant X7 | XM_047419656.1:c.1030= | XM_047419656.1:c.1030A>C | XM_047419656.1:c.1030A>T |
| IL6R transcript variant X9 | XM_047419657.1:c.979= | XM_047419657.1:c.979A>C | XM_047419657.1:c.979A>T |
| interleukin-6 receptor subunit alpha isoform 1 precursor | NP_000556.1:p.Asp358= | NP_000556.1:p.Asp358Ala | NP_000556.1:p.Asp358Val |
| interleukin-6 receptor subunit alpha isoform 4 precursor | NP_001369698.1:p.Asp391= | NP_001369698.1:p.Asp391Ala | NP_001369698.1:p.Asp391Val |
| interleukin-6 receptor subunit alpha isoform 5 precursor | NP_001369699.1:p.Asp389= | NP_001369699.1:p.Asp389Ala | NP_001369699.1:p.Asp389Val |
| interleukin-6 receptor subunit alpha isoform 6 precursor | NP_001369700.1:p.Asp374= | NP_001369700.1:p.Asp374Ala | NP_001369700.1:p.Asp374Val |
| interleukin-6 receptor subunit alpha isoform 7 precursor | NP_001369701.1:p.Asp356= | NP_001369701.1:p.Asp356Ala | NP_001369701.1:p.Asp356Val |
| interleukin-6 receptor subunit alpha isoform 9 precursor | NP_001369703.1:p.Asp238= | NP_001369703.1:p.Asp238Ala | NP_001369703.1:p.Asp238Val |
| interleukin-6 receptor subunit alpha isoform X1 | XP_016856688.1:p.Asp407= | XP_016856688.1:p.Asp407Ala | XP_016856688.1:p.Asp407Val |
| interleukin-6 receptor subunit alpha isoform X2 | XP_047275604.1:p.Asp386= | XP_047275604.1:p.Asp386Ala | XP_047275604.1:p.Asp386Val |
| interleukin-6 receptor subunit alpha isoform X3 | XP_047275605.1:p.Asp370= | XP_047275605.1:p.Asp370Ala | XP_047275605.1:p.Asp370Val |
| interleukin-6 receptor subunit alpha isoform X4 | XP_047275606.1:p.Asp337= | XP_047275606.1:p.Asp337Ala | XP_047275606.1:p.Asp337Val |
| interleukin-6 receptor subunit alpha isoform X5 | XP_047275610.1:p.Ile360= | XP_047275610.1:p.Ile360Leu | XP_047275610.1:p.Ile360Phe |
| interleukin-6 receptor subunit alpha isoform X7 | XP_047275612.1:p.Ile344= | XP_047275612.1:p.Ile344Leu | XP_047275612.1:p.Ile344Phe |
| interleukin-6 receptor subunit alpha isoform X9 | XP_047275613.1:p.Ile327= | XP_047275613.1:p.Ile327Leu | XP_047275613.1:p.Ile327Phe |
| IL6R transcript variant 8 | NM_001382773.1:c.1114+4514= | NM_001382773.1:c.1114+4514A>C | NM_001382773.1:c.1114+4514A>T |
| IL6R transcript variant 2 | NM_181359.2:c.1066+4514= | NM_181359.2:c.1066+4514A>C | NM_181359.2:c.1066+4514A>T |
| IL6R transcript variant 2 | NM_181359.3:c.1066+4514= | NM_181359.3:c.1066+4514A>C | NM_181359.3:c.1066+4514A>T |
| IL6R transcript variant X6 | XM_005245139.1:c.924+4514= | XM_005245139.1:c.924+4514A>C | XM_005245139.1:c.924+4514A>T |
| IL6R transcript variant X8 | XM_005245139.2:c.924+4514= | XM_005245139.2:c.924+4514A>C | XM_005245139.2:c.924+4514A>T |
| IL6R transcript variant X6 | XM_047419655.1:c.972+4514= | XM_047419655.1:c.972+4514A>C | XM_047419655.1:c.972+4514A>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
170 SubSNP,
25 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HDSHIN | ss12586468 | Aug 27, 2003 (130) |
| 2 | WIPGA | ss16338697 | Feb 27, 2004 (130) |
| 3 | CSHL-HAPMAP | ss16424581 | Feb 27, 2004 (130) |
| 4 | ABI | ss44044481 | Mar 13, 2006 (130) |
| 5 | SNP500CANCER | ss48295187 | Mar 13, 2006 (130) |
| 6 | APPLERA_GI | ss48414048 | Mar 13, 2006 (130) |
| 7 | ILLUMINA | ss65729818 | Oct 16, 2006 (130) |
| 8 | PERLEGEN | ss68780517 | May 18, 2007 (130) |
| 9 | AFFY | ss74811108 | Aug 16, 2007 (130) |
| 10 | ILLUMINA | ss74878395 | Dec 07, 2007 (129) |
| 11 | HGSV | ss81092025 | Dec 14, 2007 (130) |
| 12 | BCMHGSC_JDW | ss87824326 | Mar 23, 2008 (129) |
| 13 | HUMANGENOME_JCVI | ss99251101 | Feb 04, 2009 (130) |
| 14 | BGI | ss102785579 | Dec 01, 2009 (131) |
| 15 | 1000GENOMES | ss108598621 | Feb 13, 2009 (130) |
| 16 | ILLUMINA-UK | ss119031748 | Feb 15, 2009 (130) |
| 17 | KRIBB_YJKIM | ss119586912 | Dec 01, 2009 (131) |
| 18 | SEATTLESEQ | ss159699006 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss160954756 | Dec 01, 2009 (131) |
| 20 | ENSEMBL | ss161175954 | Dec 01, 2009 (131) |
| 21 | COMPLETE_GENOMICS | ss167132556 | Jul 04, 2010 (132) |
| 22 | OMICIA | ss169633700 | Aug 28, 2012 (137) |
| 23 | ILLUMINA | ss174737355 | Jul 04, 2010 (132) |
| 24 | PAGE_STUDY | ss181834220 | Jul 04, 2010 (132) |
| 25 | PAGE_STUDY | ss181836017 | Jul 04, 2010 (132) |
| 26 | BUSHMAN | ss199085348 | Jul 04, 2010 (132) |
| 27 | BCM-HGSC-SUB | ss205146825 | Jul 04, 2010 (132) |
| 28 | 1000GENOMES | ss218650924 | Jul 14, 2010 (132) |
| 29 | 1000GENOMES | ss230731649 | Jul 14, 2010 (132) |
| 30 | 1000GENOMES | ss238379598 | Jul 15, 2010 (132) |
| 31 | ILLUMINA | ss244313058 | Jul 04, 2010 (132) |
| 32 | BL | ss253508318 | May 09, 2011 (134) |
| 33 | OMIM-CURATED-RECORDS | ss256302319 | Aug 26, 2010 (132) |
| 34 | GMI | ss276050899 | May 04, 2012 (137) |
| 35 | PJP | ss290636907 | May 09, 2011 (134) |
| 36 | NHLBI-ESP | ss341996572 | May 09, 2011 (134) |
| 37 | ILLUMINA | ss410955100 | Sep 17, 2011 (135) |
| 38 | ILLUMINA | ss481798724 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss481831163 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss482792951 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss485694013 | May 04, 2012 (137) |
| 42 | 1000GENOMES | ss489766789 | May 04, 2012 (137) |
| 43 | EXOME_CHIP | ss491302298 | May 04, 2012 (137) |
| 44 | CLINSEQ_SNP | ss491605024 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss537561371 | Sep 08, 2015 (146) |
| 46 | TISHKOFF | ss554693070 | Apr 25, 2013 (138) |
| 47 | SSMP | ss648413512 | Apr 25, 2013 (138) |
| 48 | ILLUMINA | ss778628223 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss780693421 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss783292587 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss783367277 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss784245144 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss832553854 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss834085795 | Sep 08, 2015 (146) |
| 55 | JMKIDD_LAB | ss974437339 | Aug 21, 2014 (142) |
| 56 | EVA-GONL | ss975681805 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss1067426454 | Aug 21, 2014 (142) |
| 58 | JMKIDD_LAB | ss1068269028 | Aug 21, 2014 (142) |
| 59 | 1000GENOMES | ss1292922256 | Aug 21, 2014 (142) |
| 60 | DDI | ss1425978703 | Apr 01, 2015 (144) |
| 61 | EVA_GENOME_DK | ss1574391544 | Apr 01, 2015 (144) |
| 62 | EVA_FINRISK | ss1584011360 | Apr 01, 2015 (144) |
| 63 | EVA_DECODE | ss1585063118 | Apr 01, 2015 (144) |
| 64 | EVA_UK10K_ALSPAC | ss1601212214 | Apr 01, 2015 (144) |
| 65 | EVA_UK10K_TWINSUK | ss1644206247 | Apr 01, 2015 (144) |
| 66 | EVA_MGP | ss1710925391 | Apr 01, 2015 (144) |
| 67 | EVA_SVP | ss1712370858 | Apr 01, 2015 (144) |
| 68 | ILLUMINA | ss1751872139 | Sep 08, 2015 (146) |
| 69 | ILLUMINA | ss1751872140 | Sep 08, 2015 (146) |
| 70 | ILLUMINA | ss1917735313 | Feb 12, 2016 (147) |
| 71 | WEILL_CORNELL_DGM | ss1918915740 | Feb 12, 2016 (147) |
| 72 | ILLUMINA | ss1946009501 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1958317442 | Feb 12, 2016 (147) |
| 74 | GENOMED | ss1966867356 | Jul 19, 2016 (147) |
| 75 | JJLAB | ss2019973349 | Sep 14, 2016 (149) |
| 76 | ILLUMINA | ss2094784541 | Dec 20, 2016 (150) |
| 77 | USC_VALOUEV | ss2147997834 | Dec 20, 2016 (150) |
| 78 | HUMAN_LONGEVITY | ss2166534077 | Dec 20, 2016 (150) |
| 79 | ILLUMINA | ss2632575971 | Nov 08, 2017 (151) |
| 80 | ILLUMINA | ss2632575972 | Nov 08, 2017 (151) |
| 81 | ILLUMINA | ss2635003266 | Nov 08, 2017 (151) |
| 82 | GRF | ss2697970692 | Nov 08, 2017 (151) |
| 83 | GNOMAD | ss2746450286 | Nov 08, 2017 (151) |
| 84 | GNOMAD | ss2761306139 | Nov 08, 2017 (151) |
| 85 | AFFY | ss2984879258 | Nov 08, 2017 (151) |
| 86 | AFFY | ss2985525006 | Nov 08, 2017 (151) |
| 87 | SWEGEN | ss2987750815 | Nov 08, 2017 (151) |
| 88 | ILLUMINA | ss3021136143 | Nov 08, 2017 (151) |
| 89 | EVA_SAMSUNG_MC | ss3023057206 | Nov 08, 2017 (151) |
| 90 | BIOINF_KMB_FNS_UNIBA | ss3023743808 | Nov 08, 2017 (151) |
| 91 | CSHL | ss3343710175 | Nov 08, 2017 (151) |
| 92 | ILLUMINA | ss3626208197 | Oct 11, 2018 (152) |
| 93 | ILLUMINA | ss3626208198 | Oct 11, 2018 (152) |
| 94 | ILLUMINA | ss3630608869 | Oct 11, 2018 (152) |
| 95 | ILLUMINA | ss3632909935 | Oct 11, 2018 (152) |
| 96 | ILLUMINA | ss3633605257 | Oct 11, 2018 (152) |
| 97 | ILLUMINA | ss3634349817 | Oct 11, 2018 (152) |
| 98 | ILLUMINA | ss3634349818 | Oct 11, 2018 (152) |
| 99 | ILLUMINA | ss3635298709 | Oct 11, 2018 (152) |
| 100 | ILLUMINA | ss3636029293 | Oct 11, 2018 (152) |
| 101 | ILLUMINA | ss3637049197 | Oct 11, 2018 (152) |
| 102 | ILLUMINA | ss3637787243 | Oct 11, 2018 (152) |
| 103 | ILLUMINA | ss3640057174 | Oct 11, 2018 (152) |
| 104 | ILLUMINA | ss3640057175 | Oct 11, 2018 (152) |
| 105 | ILLUMINA | ss3640987238 | Oct 11, 2018 (152) |
| 106 | ILLUMINA | ss3641281274 | Oct 11, 2018 (152) |
| 107 | ILLUMINA | ss3642796529 | Oct 11, 2018 (152) |
| 108 | ILLUMINA | ss3644505459 | Oct 11, 2018 (152) |
| 109 | OMUKHERJEE_ADBS | ss3646246056 | Oct 11, 2018 (152) |
| 110 | URBANLAB | ss3646791117 | Oct 11, 2018 (152) |
| 111 | ILLUMINA | ss3651470365 | Oct 11, 2018 (152) |
| 112 | ILLUMINA | ss3653648455 | Oct 11, 2018 (152) |
| 113 | EGCUT_WGS | ss3655690805 | Jul 12, 2019 (153) |
| 114 | EVA_DECODE | ss3687780631 | Jul 12, 2019 (153) |
| 115 | ILLUMINA | ss3725065263 | Jul 12, 2019 (153) |
| 116 | ACPOP | ss3727485061 | Jul 12, 2019 (153) |
| 117 | ILLUMINA | ss3744352541 | Jul 12, 2019 (153) |
| 118 | ILLUMINA | ss3744650727 | Jul 12, 2019 (153) |
| 119 | ILLUMINA | ss3744650728 | Jul 12, 2019 (153) |
| 120 | EVA | ss3746807078 | Jul 12, 2019 (153) |
| 121 | PAGE_CC | ss3770840839 | Jul 12, 2019 (153) |
| 122 | ILLUMINA | ss3772151862 | Jul 12, 2019 (153) |
| 123 | ILLUMINA | ss3772151863 | Jul 12, 2019 (153) |
| 124 | PACBIO | ss3783566021 | Jul 12, 2019 (153) |
| 125 | PACBIO | ss3789197617 | Jul 12, 2019 (153) |
| 126 | PACBIO | ss3794069622 | Jul 12, 2019 (153) |
| 127 | KHV_HUMAN_GENOMES | ss3799808935 | Jul 12, 2019 (153) |
| 128 | EVA | ss3823662841 | Apr 25, 2020 (154) |
| 129 | EVA | ss3825518547 | Apr 25, 2020 (154) |
| 130 | EVA | ss3825535580 | Apr 25, 2020 (154) |
| 131 | EVA | ss3825575713 | Apr 25, 2020 (154) |
| 132 | EVA | ss3826423702 | Apr 25, 2020 (154) |
| 133 | EVA | ss3836606346 | Apr 25, 2020 (154) |
| 134 | EVA | ss3842015562 | Apr 25, 2020 (154) |
| 135 | SGDP_PRJ | ss3850005110 | Apr 25, 2020 (154) |
| 136 | KRGDB | ss3895210949 | Apr 25, 2020 (154) |
| 137 | KOGIC | ss3945649259 | Apr 25, 2020 (154) |
| 138 | FSA-LAB | ss3983947068 | Apr 25, 2021 (155) |
| 139 | FSA-LAB | ss3983947069 | Apr 25, 2021 (155) |
| 140 | EVA | ss3984464736 | Apr 25, 2021 (155) |
| 141 | EVA | ss3986013147 | Apr 25, 2021 (155) |
| 142 | EVA | ss3986138863 | Apr 25, 2021 (155) |
| 143 | TOPMED | ss4468271198 | Apr 25, 2021 (155) |
| 144 | TOMMO_GENOMICS | ss5146478991 | Apr 25, 2021 (155) |
| 145 | EVA | ss5236873658 | Apr 25, 2021 (155) |
| 146 | EVA | ss5237163938 | Apr 25, 2021 (155) |
| 147 | EVA | ss5237632913 | Oct 17, 2022 (156) |
| 148 | 1000G_HIGH_COVERAGE | ss5244290156 | Oct 17, 2022 (156) |
| 149 | TRAN_CS_UWATERLOO | ss5314397425 | Oct 17, 2022 (156) |
| 150 | EVA | ss5314650917 | Oct 17, 2022 (156) |
| 151 | EVA | ss5322044608 | Oct 17, 2022 (156) |
| 152 | HUGCELL_USP | ss5444883911 | Oct 17, 2022 (156) |
| 153 | 1000G_HIGH_COVERAGE | ss5517616823 | Oct 17, 2022 (156) |
| 154 | EVA | ss5623916515 | Oct 17, 2022 (156) |
| 155 | EVA | ss5623997781 | Oct 17, 2022 (156) |
| 156 | SANFORD_IMAGENETICS | ss5626589990 | Oct 17, 2022 (156) |
| 157 | TOMMO_GENOMICS | ss5673673426 | Oct 17, 2022 (156) |
| 158 | EVA | ss5799410256 | Oct 17, 2022 (156) |
| 159 | EVA | ss5799498770 | Oct 17, 2022 (156) |
| 160 | EVA | ss5800046879 | Oct 17, 2022 (156) |
| 161 | EVA | ss5800085727 | Oct 17, 2022 (156) |
| 162 | YY_MCH | ss5801259456 | Oct 17, 2022 (156) |
| 163 | EVA | ss5832664428 | Oct 17, 2022 (156) |
| 164 | EVA | ss5847556318 | Oct 17, 2022 (156) |
| 165 | EVA | ss5848272617 | Oct 17, 2022 (156) |
| 166 | EVA | ss5849108575 | Oct 17, 2022 (156) |
| 167 | EVA | ss5936512223 | Oct 17, 2022 (156) |
| 168 | EVA | ss5938383733 | Oct 17, 2022 (156) |
| 169 | EVA | ss5979989929 | Oct 17, 2022 (156) |
| 170 | EVA | ss5981197351 | Oct 17, 2022 (156) |
| 171 | 1000Genomes | NC_000001.10 - 154426970 | Oct 11, 2018 (152) |
| 172 | 1000Genomes_30x | NC_000001.11 - 154454494 | Oct 17, 2022 (156) |
| 173 | The Avon Longitudinal Study of Parents and Children | NC_000001.10 - 154426970 | Oct 11, 2018 (152) |
| 174 | Genetic variation in the Estonian population | NC_000001.10 - 154426970 | Oct 11, 2018 (152) |
| 175 | ExAC | NC_000001.10 - 154426970 | Oct 11, 2018 (152) |
| 176 | FINRISK | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 177 | The Danish reference pan genome | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 178 | gnomAD - Genomes | NC_000001.11 - 154454494 | Apr 25, 2021 (155) |
| 179 | gnomAD - Exomes | NC_000001.10 - 154426970 | Jul 12, 2019 (153) |
| 180 | Genome of the Netherlands Release 5 | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 181 | HapMap | NC_000001.11 - 154454494 | Apr 25, 2020 (154) |
| 182 | KOREAN population from KRGDB | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 183 | Korean Genome Project | NC_000001.11 - 154454494 | Apr 25, 2020 (154) |
| 184 | Medical Genome Project healthy controls from Spanish population | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 185 | Northern Sweden | NC_000001.10 - 154426970 | Jul 12, 2019 (153) |
| 186 | The PAGE Study | NC_000001.11 - 154454494 | Jul 12, 2019 (153) |
| 187 | CNV burdens in cranial meningiomas | NC_000001.10 - 154426970 | Apr 25, 2021 (155) |
| 188 | Qatari | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 189 | SGDP_PRJ | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 190 | Siberian | NC_000001.10 - 154426970 | Apr 25, 2020 (154) |
| 191 | 8.3KJPN | NC_000001.10 - 154426970 | Apr 25, 2021 (155) |
| 192 | 14KJPN | NC_000001.11 - 154454494 | Oct 17, 2022 (156) |
| 193 | TopMed | NC_000001.11 - 154454494 | Apr 25, 2021 (155) |
| 194 | UK 10K study - Twins | NC_000001.10 - 154426970 | Oct 11, 2018 (152) |
| 195 | ALFA | NC_000001.11 - 154454494 | Apr 25, 2021 (155) |
| 196 | ClinVar | RCV000015767.2 | Oct 11, 2018 (152) |
| 197 | ClinVar | RCV000029243.2 | Oct 11, 2018 (152) |
| 198 | ClinVar | RCV001514924.4 | Oct 17, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs8192284 | May 24, 2008 (130) |
| rs52837205 | Sep 21, 2007 (128) |
| rs58037860 | May 24, 2008 (130) |
| rs117579727 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss81092025 | NC_000001.8:151240042:A:C | NC_000001.11:154454493:A:C | (self) |
| ss87824326, ss108598621, ss119031748, ss167132556, ss205146825, ss253508318, ss276050899, ss290636907, ss481798724, ss491605024, ss1585063118, ss1712370858, ss2635003266, ss3642796529 | NC_000001.9:152693593:A:C | NC_000001.11:154454493:A:C | (self) |
| 3714169, 2019210, 1429053, 5022844, 7821, 1708343, 913256, 877493, 2388343, 42143, 769926, 14050, 957670, 2022090, 514188, 4448298, 2019210, ss218650924, ss230731649, ss238379598, ss341996572, ss481831163, ss482792951, ss485694013, ss489766789, ss491302298, ss537561371, ss554693070, ss648413512, ss778628223, ss780693421, ss783292587, ss783367277, ss784245144, ss832553854, ss834085795, ss974437339, ss975681805, ss1067426454, ss1068269028, ss1292922256, ss1425978703, ss1574391544, ss1584011360, ss1601212214, ss1644206247, ss1710925391, ss1751872139, ss1751872140, ss1917735313, ss1918915740, ss1946009501, ss1958317442, ss1966867356, ss2019973349, ss2094784541, ss2147997834, ss2632575971, ss2632575972, ss2697970692, ss2746450286, ss2761306139, ss2984879258, ss2985525006, ss2987750815, ss3021136143, ss3023057206, ss3343710175, ss3626208197, ss3626208198, ss3630608869, ss3632909935, ss3633605257, ss3634349817, ss3634349818, ss3635298709, ss3636029293, ss3637049197, ss3637787243, ss3640057174, ss3640057175, ss3640987238, ss3641281274, ss3644505459, ss3646246056, ss3651470365, ss3653648455, ss3655690805, ss3727485061, ss3744352541, ss3744650727, ss3744650728, ss3746807078, ss3772151862, ss3772151863, ss3783566021, ss3789197617, ss3794069622, ss3823662841, ss3825518547, ss3825535580, ss3825575713, ss3826423702, ss3836606346, ss3850005110, ss3895210949, ss3983947068, ss3983947069, ss3984464736, ss3986013147, ss3986138863, ss5146478991, ss5314650917, ss5322044608, ss5623916515, ss5623997781, ss5626589990, ss5799410256, ss5799498770, ss5800046879, ss5800085727, ss5832664428, ss5847556318, ss5848272617, ss5936512223, ss5938383733, ss5979989929, ss5981197351 | NC_000001.10:154426969:A:C | NC_000001.11:154454493:A:C | (self) |
| RCV000015767.2, RCV000029243.2, RCV001514924.4, 5142758, 27025870, 176326, 2027260, 62308, 7510530, 31877533, 746510828, ss169633700, ss256302319, ss2166534077, ss3023743808, ss3646791117, ss3687780631, ss3725065263, ss3770840839, ss3799808935, ss3842015562, ss3945649259, ss4468271198, ss5236873658, ss5237163938, ss5237632913, ss5244290156, ss5314397425, ss5444883911, ss5517616823, ss5673673426, ss5801259456, ss5849108575 | NC_000001.11:154454493:A:C | NC_000001.11:154454493:A:C | (self) |
| ss12586468, ss16338697, ss44044481, ss48295187, ss48414048, ss65729818, ss68780517, ss74811108, ss74878395, ss99251101, ss102785579, ss119586912, ss159699006, ss160954756, ss161175954, ss174737355, ss181834220, ss181836017, ss244313058, ss410955100 | NT_004487.19:5915611:A:C | NC_000001.11:154454493:A:C | (self) |
| ss16424581 | NT_079484.1:876801:A:C | NC_000001.11:154454493:A:C | (self) |
| ss199085348 | NC_000001.9:152693593:A:T | NC_000001.11:154454493:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
137
citations for rs2228145
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15306846 | Polymorphisms in the IL-6 receptor (IL-6R) gene: strong evidence that serum levels of soluble IL-6R are genetically influenced. | Galicia JC et al. | 2004 | Genes and immunity |
| 17357077 | Admixture mapping of an allele affecting interleukin 6 soluble receptor and interleukin 6 levels. | Reich D et al. | 2007 | American journal of human genetics |
| 17671508 | A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. | Rafiq S et al. | 2007 | Genes and immunity |
| 17898129 | Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women. | Qi L et al. | 2007 | Diabetes |
| 17984249 | Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women. | Bustamante M et al. | 2007 | European journal of endocrinology |
| 18439548 | Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. | Ridker PM et al. | 2008 | American journal of human genetics |
| 18781131 | Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. | Gu F et al. | 2008 | Melanoma research |
| 18852197 | Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. | Mohlke KL et al. | 2008 | Human molecular genetics |
| 18852330 | Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women. | Qi L et al. | 2009 | Diabetes |
| 18853133 | Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. | Rafiq S et al. | 2008 | Diabetologia |
| 19124510 | Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma. | Birmann BM et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19249341 | Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. | Walston JD et al. | 2009 | Experimental gerontology |
| 19280716 | The IL6-174G/C polymorphism is associated with celiac disease susceptibility in girls. | Dema B et al. | 2009 | Human immunology |
| 19356949 | Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies. | Van Dyke AL et al. | 2009 | Cytokine |
| 19480857 | ||||
| 19503017 | Genetic ancestry modifies pharmacogenetic gene-gene interaction for asthma. | Corvol H et al. | 2009 | Pharmacogenetics and genomics |
| 19567438 | Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. | Elliott P et al. | 2009 | JAMA |
| 19671870 | Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma: rs1800795 (promoter) and rs8192284 (receptor). | Lagmay JP et al. | 2009 | Clinical cancer research |
| 19713205 | A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility. | Marinou I et al. | 2010 | Annals of the rheumatic diseases |
| 19773451 | Role of inflammation gene polymorphisms on pain severity in lung cancer patients. | Reyes-Gibby CC et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19926672 | Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis. | Hassan B et al. | 2010 | Rheumatology (Oxford, England) |
| 19967057 | Association between Interleukin 31 Receptor A Gene Polymorphism and Schizophrenia in Korean Population. | Ban JY et al. | 2008 | The Korean journal of physiology & pharmacology |
| 20031577 | Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. | Danik JS et al. | 2009 | Circulation. Cardiovascular genetics |
| 20031590 | The relation of genetic and environmental factors to systemic inflammatory biomarker concentrations. | Schnabel RB et al. | 2009 | Circulation. Cardiovascular genetics |
| 20157327 | A variant near the interleukin-6 gene is associated with fat mass in Caucasian men. | Andersson N et al. | 2010 | International journal of obesity (2005) |
| 20186139 | Interleukin-6 receptor gene polymorphism modulates interleukin-6 levels and the metabolic syndrome: GBCS-CVD. | Jiang CQ et al. | 2010 | Obesity (Silver Spring, Md.) |
| 20197062 | Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han. | Wang M et al. | 2010 | Brain research |
| 20357209 | Molecular genetic studies of gene identification for osteoporosis: the 2009 update. | Xu XH et al. | 2010 | Endocrine reviews |
| 20551110 | Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis. | Lamas JR et al. | 2010 | The Journal of rheumatology |
| 20661738 | Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity. | Rodríguez-Rodríguez L et al. | 2011 | Rheumatology international |
| 20811626 | Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. | Hildebrandt MA et al. | 2010 | PloS one |
| 20978265 | Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe). | Wassel CL et al. | 2011 | Blood |
| 21333900 | The role of genetics in IBS. | Saito YA et al. | 2011 | Gastroenterology clinics of North America |
| 21496483 | Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway. | Reinertsen KV et al. | 2011 | Brain, behavior, and immunity |
| 21523452 | Genetic variation in proinflammatory cytokines IL6, IL6R, TNF-region, and TNFRSF1A and risk of breast cancer. | Madeleine MM et al. | 2011 | Breast cancer research and treatment |
| 21835044 | Association between interleukin-6 receptor gene variations and atherosclerotic lipid profiles among young adolescents in Taiwan. | Chu NF et al. | 2011 | Lipids in health and disease |
| 21846873 | Large-scale candidate gene analysis in whites and African Americans identifies IL6R polymorphism in relation to atrial fibrillation: the National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe) project. | Schnabel RB et al. | 2011 | Circulation. Cardiovascular genetics |
| 21937998 | Single-nucleotide polymorphisms at five loci are associated with C-reactive protein levels in a cohort of Filipino young adults. | Curocichin G et al. | 2011 | Journal of human genetics |
| 21981268 | Lack of association of IL6R rs2228145 and IL6ST/gp130 rs2228044 gene polymorphisms with cardiovascular disease in patients with rheumatoid arthritis. | López-Mejías R et al. | 2011 | Tissue antigens |
| 22128229 | Proinflammatory gene polymorphisms are potentially associated with Korean non-Sjogren dry eye patients. | Na KS et al. | 2011 | Molecular vision |
| 22265947 | Multigenic control of measles vaccine immunity mediated by polymorphisms in measles receptor, innate pathway, and cytokine genes. | Kennedy RB et al. | 2012 | Vaccine |
| 22291609 | A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. | Naitza S et al. | 2012 | PLoS genetics |
| 22359581 | Th17-related genes and celiac disease susceptibility. | Medrano LM et al. | 2012 | PloS one |
| 22421339 | Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. | Sarwar N et al. | 2012 | Lancet (London, England) |
| 22421340 | The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. | Swerdlow DI et al. | 2012 | Lancet (London, England) |
| 22492993 | C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans. | Doumatey AP et al. | 2012 | Human molecular genetics |
| 22553514 | Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma. | Zhou G et al. | 2010 | International journal of ophthalmology |
| 22554704 | The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma. | Hawkins GA et al. | 2012 | The Journal of allergy and clinical immunology |
| 22595970 | Identification of cis-regulatory variation influencing protein abundance levels in human plasma. | Lourdusamy A et al. | 2012 | Human molecular genetics |
| 22674296 | Interleukin genes and associations with colon and rectal cancer risk and overall survival. | Bondurant KL et al. | 2013 | International journal of cancer |
| 22742541 | No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis. | Cénit MC et al. | 2012 | Tissue antigens |
| 22927710 | Genetic markers of cardiovascular disease in rheumatoid arthritis. | Rodríguez-Rodríguez L et al. | 2012 | Mediators of inflammation |
| 23024462 | Atherosclerosis and rheumatoid arthritis: more than a simple association. | Cavagna L et al. | 2012 | Mediators of inflammation |
| 23073775 | Association of two variants in the interleukin-6 receptor gene and premature coronary heart disease in a Chinese Han population. | Chen Z et al. | 2013 | Molecular biology reports |
| 23094986 | Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents. | Hsieh CH et al. | 2012 | Genetic testing and molecular biomarkers |
| 23111417 | Interleukin-6 receptor pathways in abdominal aortic aneurysm. | Harrison SC et al. | 2013 | European heart journal |
| 23505291 | Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers. | Shah T et al. | 2013 | Circulation. Cardiovascular genetics |
| 23533647 | Polymorphisms in the calcium-sensing receptor gene are associated with clinical outcome of neuroblastoma. | Masvidal L et al. | 2013 | PloS one |
| 23594084 | The interleukin 6 receptor alpha gene polymorphisms are associated with clinical manifestations of systemic lupus erythematosus in Koreans. | Jeon JY et al. | 2013 | International journal of immunogenetics |
| 23696881 | Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. | Wood AR et al. | 2013 | PloS one |
| 23891823 | Impact of genetic variants of IL-6, IL6R, LRP5, ESR1 and SP7 genes on bone mineral density in postmenopausal Mexican-Mestizo women with obesity. | Méndez JP et al. | 2013 | Gene |
| 24059848 | Interleukin-6 polymorphisms and hematologic malignancy: a re-appraisal of evidence from genetic association studies. | Ziakas PD et al. | 2013 | Biomarkers |
| 24285489 | Investigation of an interleukin-6 receptor gene polymorphism (rs2228145) as a predictor of cardiovascular mortality in inflammatory polyarthritis: results from the Norfolk Arthritis Register. | Ibrahim I et al. | 2014 | Annals of the rheumatic diseases |
| 24763700 | New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis. | Vinayagamoorthy N et al. | 2014 | PloS one |
| 24791950 | The contribution of the functional IL6R polymorphism rs2228145, eQTLs and other genome-wide SNPs to the heritability of plasma sIL-6R levels. | van Dongen J et al. | 2014 | Behavior genetics |
| 24878322 | The interleukin-6 receptor Asp358Ala single nucleotide polymorphism rs2228145 confers increased proteolytic conversion rates by ADAM proteases. | Garbers C et al. | 2014 | Biochimica et biophysica acta |
| 24886605 | Genetic modulation of the interleukin 6 (IL-6) system in patients with advanced gastric cancer: a background for an alternative target therapy. | Ruzzo A et al. | 2014 | BMC cancer |
| 24978393 | Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as predictors of response to tocilizumab in rheumatoid arthritis. | Enevold C et al. | 2014 | Pharmacogenetics and genomics |
| 25098560 | Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination. | Kennedy RB et al. | 2014 | Human genetics |
| 25781951 | Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease. | Gigante B et al. | 2015 | PloS one |
| 25813875 | Interleukin and growth factor gene variants and risk of carpal tunnel syndrome. | Burger MC et al. | 2015 | Gene |
| 26198920 | Family-based association study of interleukin 6 (IL6) and its receptor (IL6R) functional polymorphisms in schizophrenia in the Polish population. | Kapelski P et al. | 2015 | Journal of neuroimmunology |
| 26336855 | Variation at interleukin-6 receptor gene is associated to joint damage in rheumatoid arthritis. | Lopez-Lasanta M et al. | 2015 | Arthritis research & therapy |
| 26582562 | Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver. | Engelken J et al. | 2016 | Molecular biology and evolution |
| 26725994 | Interleukin-6, interleukin-6 receptor gene variant, small-vessel disease and incident dementia. | Miwa K et al. | 2016 | European journal of neurology |
| 26843965 | Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. | Saad MN et al. | 2016 | Journal of advanced research |
| 26846412 | Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study. | Ramos BR et al. | 2016 | BMC pregnancy and childbirth |
| 26955245 | Interleukin-6 Receptor Polymorphisms Contribute to the Neurological Status of Korean Patients with Ischemic Stroke. | Kim DH et al. | 2016 | Journal of Korean medical science |
| 26997259 | The IL6R gene polymorphisms are associated with sIL-6R, IgE and lung function in Chinese patients with asthma. | Wang Y et al. | 2016 | Gene |
| 27177774 | Interactive effects of C-reactive protein levels on the association between APOE variants and triglyceride levels in a Taiwanese population. | Wu S et al. | 2016 | Lipids in health and disease |
| 27327646 | Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study. | Prins BP et al. | 2016 | PLoS medicine |
| 27338350 | Rheumatoid Arthritis: The Stride from Research to Clinical Practice. | Chung IM et al. | 2016 | International journal of molecular sciences |
| 27454212 | Meta-Analysis of Cytokine and Chemokine Genes in Schizophrenia. | Hudson ZD et al. | 2018 | Clinical schizophrenia & related psychoses |
| 27525545 | Association of IL-6 Promoter and Receptor Polymorphisms with Multiple Myeloma Risk: A Systematic Review and Meta-Analysis. | Li Y et al. | 2016 | Genetic testing and molecular biomarkers |
| 27532455 | Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD. | Sun W et al. | 2016 | PLoS genetics |
| 27589735 | A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification. | Ponasenko AV et al. | 2016 | International journal of molecular sciences |
| 27777593 | Genetic and epigenetic studies of atopic dermatitis. | Bin L et al. | 2016 | Allergy, asthma, and clinical immunology |
| 27958380 | Influence of IL6R gene polymorphisms in the effectiveness to treatment with tocilizumab in rheumatoid arthritis. | Maldonado-Montoro M et al. | 2018 | The pharmacogenomics journal |
| 28106546 | A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains. | Haddick PC et al. | 2017 | Journal of Alzheimer's disease |
| 28107422 | Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. | de Vries PS et al. | 2017 | PloS one |
| 28144260 | The rs2228145 polymorphism in the interleukin-6 receptor and its association with long-term prognosis after myocardial infarction in a pilot study. | Szpakowicz A et al. | 2017 | Archives of medical science |
| 28442395 | Association of genetic variations in IL-6/IL-6R pathway genes with gastric cancer risk in a Chinese population. | Zhang JZ et al. | 2017 | Gene |
| 28593468 | Association of the IL6 rs1800796, but not of the IL6 rs1800795, IL6R rs4845617 and rs2228145 polymorphisms with hip fracture in elderly Mexican women. | Ponce de León-Suárez V et al. | 2018 | Aging clinical and experimental research |
| 28650998 | Functional annotation of Alzheimer's disease associated loci revealed by GWASs. | Han Z et al. | 2017 | PloS one |
| 29197507 | Association between a functional interleukin 6 receptor genetic variant and risk of depression and psychosis in a population-based birth cohort. | Khandaker GM et al. | 2018 | Brain, behavior, and immunity |
| 29513361 | A pilot study of single nucleotide polymorphisms in the interleukin-6 receptor and their effects on pre- and post-transplant serum mediator level and outcome after allogeneic stem cell transplantation. | Tvedt THA et al. | 2018 | Clinical and experimental immunology |
| 29688528 | Smoking, Systemic Inflammation, and Airflow Limitation: A Mendelian Randomization Analysis of 98 085 Individuals From the General Population. | Çolak Y et al. | 2019 | Nicotine & tobacco research |
| 29775600 | Variation in Interleukin 6 Receptor Gene Associates With Risk of Crohn's Disease and Ulcerative Colitis. | Parisinos CA et al. | 2018 | Gastroenterology |
| 29797122 | IL6R Gene Polymorphic Variant rs2228145(C >A) as a Marker of Genetic Liability to Nonalcoholic Steatohepatitis in the Russian Population of Karelia. | Topchieva LV et al. | 2018 | Bulletin of experimental biology and medicine |
| 30090940 | Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy: A Phenome-Wide Association Study. | Cai T et al. | 2018 | JAMA cardiology |
| 30228077 | Association of IL4R-rs1805016 and IL6R-rs8192284 polymorphisms with clinical dengue in children from Colombian populations. | Useche YM et al. | 2019 | Journal of infection and public health |
| 30651573 | Prognostic role of genetic polymorphisms of the interleukin-6 signaling pathway in patients with severe heart failure. | Hansen PR et al. | 2019 | The pharmacogenomics journal |
| 30657332 | Interleukin-6 Receptor Signaling and Abdominal Aortic Aneurysm Growth Rates. | Paige E et al. | 2019 | Circulation. Genomic and precision medicine |
| 30662970 | IL6/IL6R genetic diversity and plasma IL6 levels in bipolar disorder: An Indo-French study. | Sundaresh A et al. | 2019 | Heliyon |
| 30787661 | Are IL1B, IL6 and IL6R Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility? | Lulińska-Kuklik E et al. | 2019 | Journal of sports science & medicine |
| 31021550 | Evaluation of variants in IL6R, TLR3, and DC-SIGN genes associated with dengue in sampled Colombian population. | Avendaño-Tamayo E et al. | 2019 | Biomedica |
| 31237452 | The IL-6-neutralizing sIL-6R-sgp130 buffer system is disturbed in patients with type 2 diabetes. | Aparicio-Siegmund S et al. | 2019 | American journal of physiology. Endocrinology and metabolism |
| 31341681 | Lack of Association between the IL6R Gene Asp358Ala Variant (rs2228145), IL-6 Plasma Levels, and Treatment Resistance in Chilean Schizophrenic Patients Treated with Clozapine. | Cavieres A et al. | 2019 | Schizophrenia research and treatment |
| 31395468 | Functional polymorphisms within the inflammatory pathway regulate expression of extracellular matrix components in a genetic risk dependent model for anterior cruciate ligament injuries. | Suijkerbuijk MAM et al. | 2019 | Journal of science and medicine in sport |
| 31468132 | Association of Variants in IL6-Related Genes with Lung Cancer Risk in Moroccan Population. | Kaanane H et al. | 2019 | Lung |
| 31611269 | IL6 receptor(358)Ala variant and trans-signaling are disease modifiers in amyotrophic lateral sclerosis. | Wosiski-Kuhn M et al. | 2019 | Neurology(R) neuroimmunology & neuroinflammation |
| 31744360 | Influence of single nucleotide polymorphisms (SNPs) in immunoregulatory genes in the morbidity of preterm newborns. | Ribeiro de Andrade Ramos B et al. | 2021 | The journal of maternal-fetal & neonatal medicine |
| 31836512 | Polymorphism of IL6 receptor gene is associated with ischaemic stroke in patients with metabolic syndrome. | Huang X et al. | 2020 | Brain research |
| 31900081 | Inflammatory biomarkers and risk of ischemic stroke and subtypes: A 2-sample Mendelian randomization study. | Lin J et al. | 2020 | Neurological research |
| 31929778 | Association between Hepatitis C Virus Viremia and the rs12979860, rs2228145 and rs1800795 SNP (CT/AC/GG) Genotype in Saudi Kidney Transplant Recipients. | Alkharsah KR et al. | 2020 | Saudi journal of medicine & medical sciences |
| 32064097 | Association between interleukin gene polymorphisms and multiple myeloma susceptibility. | Shahzad MN et al. | 2020 | Molecular and clinical oncology |
| 32292581 | Methylation Pattern of the SOCS3 and IL6R Promoters in Rheumatoid Arthritis. | Cieśla M et al. | 2020 | International journal of inflammation |
| 32328834 | Mendelian randomization study to evaluate the effects of interleukin-6 signaling on four neurodegenerative diseases. | Zhang H et al. | 2020 | Neurological sciences |
| 32535289 | Polymorphisms in genes involved in inflammation, the NF-kB pathway and the renin-angiotensin-aldosterone system are associated with the risk of osteoporotic fracture. The Hortega Follow-up Study. | Usategui-Martín R et al. | 2020 | Bone |
| 32831971 | Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population. | Aslam MM et al. | 2020 | Disease markers |
| 32936528 | Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19). | Zubiaur P et al. | 2020 | Clinical and translational science |
| 33339153 | Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders. | Strafella C et al. | 2020 | Life (Basel, Switzerland) |
| 33522443 | Risk modelling further implicates the angiogenesis pathway in anterior cruciate ligament ruptures. | Rahim M et al. | 2022 | European journal of sport science |
| 33815092 | Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review. | Vogrinc D et al. | 2021 | Frontiers in aging neuroscience |
| 33835216 | Soluble IL-6R-mediated IL-6 trans-signaling activation contributes to the pathological development of psoriasis. | Xu H et al. | 2021 | Journal of molecular medicine (Berlin, Germany) |
| 34353696 | Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients'. | Smieszek SP et al. | 2021 | Cytokine |
| 34389747 | Donor genetic variants in interleukin-6 and interleukin-6 receptor associate with biopsy-proven rejection following kidney transplantation. | Poppelaars F et al. | 2021 | Scientific reports |
| 34484216 | Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease. | Ren P et al. | 2021 | Frontiers in immunology |
| 34827409 | Associations of Immune Genetic Variability with Gulf War Illness in 1990-1991 Gulf War Veterans from the Gulf War Illness Consortium (GWIC) Multisite Case-Control Study. | Coller JK et al. | 2021 | Brain sciences |
| 34834553 | Innate-Immunity Genes in Obesity. | Mikhailova SV et al. | 2021 | Journal of personalized medicine |
| 35088123 | Genetics of rheumatoid arthritis. | Padyukov L et al. | 2022 | Seminars in immunopathology |
| 35338260 | Association of the IL-6R gene polymorphic variant rs2228145(C>A) with IL-6 gene polymorphisms in a healthy cohort of Turkish population. | Karcıoğlu Batur L et al. | 2022 | Genes and immunity |
| 35493452 | Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes. | Zhang M et al. | 2022 | Frontiers in immunology |
| 35521908 | Single nucleotide polymorphisms located in TNFA, IL1RN, IL6R, and IL6 genes are associated with COVID-19 risk and severity in an Iranian population. | Rokni M et al. | 2022 | Cell biology international |
| 35747747 | Interleukin-6 Receptor Blockade can Increase the Risk of Nonalcoholic Fatty Liver Disease: Indications From Mendelian Randomization. | Li S et al. | 2022 | Frontiers in pharmacology |
| 35886067 | Genetic Biomarkers as Predictors of Response to Tocilizumab in Rheumatoid Arthritis: A Systematic Review and Meta-Analysis. | Janahiraman S et al. | 2022 | Genes |
| 35911690 | IL-6-Driven pSTAT1 Response Is Linked to T Cell Features Implicated in Early Immune Dysregulation. | Lambert K et al. | 2022 | Frontiers in immunology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.