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.
rs3814541
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:106927471 (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
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.140427 (39181/279014, ALFA)T=0.105437 (27908/264690, TOPMED)T=0.131164 (32979/251434, GnomAD_exome) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ZNF462 : Missense Variant
- Publications
- 0 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.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 295404 | C=0.861065 | T=0.138935 |
European | Sub | 240200 | C=0.852639 | T=0.147361 |
African | Sub | 14524 | C=0.96454 | T=0.03546 |
African Others | Sub | 510 | C=0.988 | T=0.012 |
African American | Sub | 14014 | C=0.96368 | T=0.03632 |
Asian | Sub | 6464 | C=0.9013 | T=0.0987 |
East Asian | Sub | 4596 | C=0.9095 | T=0.0905 |
Other Asian | Sub | 1868 | C=0.8812 | T=0.1188 |
Latin American 1 | Sub | 994 | C=0.878 | T=0.122 |
Latin American 2 | Sub | 5768 | C=0.9182 | T=0.0818 |
South Asian | Sub | 5168 | C=0.8189 | T=0.1811 |
Other | Sub | 22286 | C=0.86700 | T=0.13300 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 279014 | C=0.859573 | T=0.140427 |
Allele Frequency Aggregator | European | Sub | 230096 | C=0.852740 | T=0.147260 |
Allele Frequency Aggregator | Other | Sub | 20838 | C=0.86717 | T=0.13283 |
Allele Frequency Aggregator | African | Sub | 9686 | C=0.9626 | T=0.0374 |
Allele Frequency Aggregator | Asian | Sub | 6464 | C=0.9013 | T=0.0987 |
Allele Frequency Aggregator | Latin American 2 | Sub | 5768 | C=0.9182 | T=0.0818 |
Allele Frequency Aggregator | South Asian | Sub | 5168 | C=0.8189 | T=0.1811 |
Allele Frequency Aggregator | Latin American 1 | Sub | 994 | C=0.878 | T=0.122 |
TopMed | Global | Study-wide | 264690 | C=0.894563 | T=0.105437 |
gnomAD - Exomes | Global | Study-wide | 251434 | C=0.868836 | T=0.131164 |
gnomAD - Exomes | European | Sub | 135374 | C=0.848678 | T=0.151322 |
gnomAD - Exomes | Asian | Sub | 49008 | C=0.84992 | T=0.15008 |
gnomAD - Exomes | American | Sub | 34590 | C=0.92402 | T=0.07598 |
gnomAD - Exomes | African | Sub | 16254 | C=0.96955 | T=0.03045 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=0.88681 | T=0.11319 |
gnomAD - Exomes | Other | Sub | 6128 | C=0.8572 | T=0.1428 |
gnomAD - Genomes | Global | Study-wide | 139846 | C=0.891659 | T=0.108341 |
gnomAD - Genomes | European | Sub | 75762 | C=0.85179 | T=0.14821 |
gnomAD - Genomes | African | Sub | 41872 | C=0.96549 | T=0.03451 |
gnomAD - Genomes | American | Sub | 13622 | C=0.88651 | T=0.11349 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.8953 | T=0.1047 |
gnomAD - Genomes | East Asian | Sub | 3120 | C=0.8946 | T=0.1054 |
gnomAD - Genomes | Other | Sub | 2146 | C=0.8816 | T=0.1184 |
ExAC | Global | Study-wide | 121276 | C=0.866857 | T=0.133143 |
ExAC | Europe | Sub | 73248 | C=0.84877 | T=0.15123 |
ExAC | Asian | Sub | 25154 | C=0.84718 | T=0.15282 |
ExAC | American | Sub | 11576 | C=0.93115 | T=0.06885 |
ExAC | African | Sub | 10396 | C=0.96932 | T=0.03068 |
ExAC | Other | Sub | 902 | C=0.878 | T=0.122 |
The PAGE Study | Global | Study-wide | 78700 | C=0.91863 | T=0.08137 |
The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.96365 | T=0.03635 |
The PAGE Study | Mexican | Sub | 10808 | C=0.90618 | T=0.09382 |
The PAGE Study | Asian | Sub | 8318 | C=0.9054 | T=0.0946 |
The PAGE Study | PuertoRican | Sub | 7918 | C=0.8623 | T=0.1377 |
The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.8635 | T=0.1365 |
The PAGE Study | Cuban | Sub | 4230 | C=0.8570 | T=0.1430 |
The PAGE Study | Dominican | Sub | 3828 | C=0.8858 | T=0.1142 |
The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9310 | T=0.0690 |
The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9072 | T=0.0928 |
The PAGE Study | NativeAmerican | Sub | 1260 | C=0.8762 | T=0.1238 |
The PAGE Study | SouthAsian | Sub | 856 | C=0.812 | T=0.188 |
14KJPN | JAPANESE | Study-wide | 28258 | C=0.89982 | T=0.10018 |
8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.90179 | T=0.09821 |
GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.89336 | T=0.10664 |
GO Exome Sequencing Project | European American | Sub | 8600 | C=0.8543 | T=0.1457 |
GO Exome Sequencing Project | African American | Sub | 4406 | C=0.9696 | T=0.0304 |
1000Genomes_30x | Global | Study-wide | 6404 | C=0.8998 | T=0.1002 |
1000Genomes_30x | African | Sub | 1786 | C=0.9871 | T=0.0129 |
1000Genomes_30x | Europe | Sub | 1266 | C=0.8412 | T=0.1588 |
1000Genomes_30x | South Asian | Sub | 1202 | C=0.8062 | T=0.1938 |
1000Genomes_30x | East Asian | Sub | 1170 | C=0.9188 | T=0.0812 |
1000Genomes_30x | American | Sub | 980 | C=0.908 | T=0.092 |
1000Genomes | Global | Study-wide | 5008 | C=0.8964 | T=0.1036 |
1000Genomes | African | Sub | 1322 | C=0.9849 | T=0.0151 |
1000Genomes | East Asian | Sub | 1008 | C=0.9206 | T=0.0794 |
1000Genomes | Europe | Sub | 1006 | C=0.8380 | T=0.1620 |
1000Genomes | South Asian | Sub | 978 | C=0.803 | T=0.197 |
1000Genomes | American | Sub | 694 | C=0.909 | T=0.091 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.8353 | T=0.1647 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8430 | T=0.1570 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.8549 | T=0.1451 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.9215 | T=0.0785 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.8949 | T=0.1051 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.900 | T=0.100 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.872 | T=0.128 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.880 | T=0.120 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.816 | T=0.184 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.983 | T=0.017 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=1.000 | T=0.000 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.81 | T=0.19 |
HapMap | Global | Study-wide | 1890 | C=0.9116 | T=0.0884 |
HapMap | American | Sub | 768 | C=0.874 | T=0.126 |
HapMap | African | Sub | 692 | C=0.971 | T=0.029 |
HapMap | Asian | Sub | 254 | C=0.937 | T=0.063 |
HapMap | Europe | Sub | 176 | C=0.807 | T=0.193 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.8574 | T=0.1426 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.858 | T=0.142 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.917 | T=0.083 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.885 | T=0.115 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.833 | T=0.167 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.78 | T=0.22 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.81 | T=0.19 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.872 | T=0.128 |
CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.918 | T=0.082 |
CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.918 | T=0.082 |
Northern Sweden | ACPOP | Study-wide | 600 | C=0.828 | T=0.172 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.860 | T=0.140 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.842 | T=0.158 |
Qatari | Global | Study-wide | 216 | C=0.870 | T=0.130 |
SGDP_PRJ | Global | Study-wide | 114 | C=0.491 | T=0.509 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 100 | C=0.68 | T=0.32 |
Siberian | Global | Study-wide | 8 | C=0.5 | T=0.5 |
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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.106927471C>T |
GRCh37.p13 chr 9 | NC_000009.11:g.109689752C>T |
ZNF462 RefSeqGene | NG_052913.1:g.69375C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ZNF462 transcript variant 2 |
NM_001347997.2:c.3252+307… NM_001347997.2:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant 1 | NM_021224.6:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform 1 | NP_067047.4:p.Pro1187Ser | P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X32 |
XM_017014998.3:c.3252+307… XM_017014998.3:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X27 |
XM_047423679.1:c.3252+307… XM_047423679.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X28 |
XM_047423680.1:c.3252+307… XM_047423680.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X29 |
XM_047423681.1:c.3252+307… XM_047423681.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X30 |
XM_047423682.1:c.3252+307… XM_047423682.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X31 |
XM_047423683.1:c.3252+307… XM_047423683.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X33 |
XM_047423684.1:c.3252+307… XM_047423684.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X34 |
XM_047423685.1:c.3252+307… XM_047423685.1:c.3252+307C>T |
N/A | Intron Variant |
ZNF462 transcript variant X11 | XM_024447629.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_024303397.1:p.Pro1187S… XP_024303397.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X1 | XM_006717209.5:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_006717272.1:p.Pro1187S… XP_006717272.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X2 | XM_047423661.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279617.1:p.Pro1187S… XP_047279617.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X3 | XM_006717212.5:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_006717275.1:p.Pro1187S… XP_006717275.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X4 | XM_047423662.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279618.1:p.Pro1187S… XP_047279618.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X5 | XM_047423663.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279619.1:p.Pro1187S… XP_047279619.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X6 | XM_017014997.3:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_016870486.1:p.Pro1187S… XP_016870486.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X7 | XM_047423664.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279620.1:p.Pro1187S… XP_047279620.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X8 | XM_017014996.3:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_016870485.1:p.Pro1187S… XP_016870485.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X9 | XM_006717211.5:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_006717274.1:p.Pro1187S… XP_006717274.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X10 | XM_047423665.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279621.1:p.Pro1187S… XP_047279621.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X12 | XM_047423666.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279622.1:p.Pro1187S… XP_047279622.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X13 | XM_047423667.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X1 |
XP_047279623.1:p.Pro1187S… XP_047279623.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X14 | XM_047423668.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X2 |
XP_047279624.1:p.Pro1187S… XP_047279624.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X15 | XM_006717215.5:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X2 |
XP_006717278.1:p.Pro1187S… XP_006717278.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X16 | XM_047423669.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X2 |
XP_047279625.1:p.Pro1187S… XP_047279625.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X17 | XM_047423670.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X2 |
XP_047279626.1:p.Pro1187S… XP_047279626.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X18 | XM_047423671.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X2 |
XP_047279627.1:p.Pro1187S… XP_047279627.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X19 | XM_006717216.5:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_006717279.1:p.Pro1187S… XP_006717279.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X20 | XM_047423672.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279628.1:p.Pro1187S… XP_047279628.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X21 | XM_047423673.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279629.1:p.Pro1187S… XP_047279629.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X22 | XM_047423674.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279630.1:p.Pro1187S… XP_047279630.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X23 | XM_047423675.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279631.1:p.Pro1187S… XP_047279631.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X24 | XM_047423676.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279632.1:p.Pro1187S… XP_047279632.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X25 | XM_047423677.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279633.1:p.Pro1187S… XP_047279633.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
ZNF462 transcript variant X26 | XM_047423678.1:c.3559C>T | P [CCT] > S [TCT] | Coding Sequence Variant |
zinc finger protein 462 isoform X3 |
XP_047279634.1:p.Pro1187S… XP_047279634.1:p.Pro1187Ser |
P (Pro) > S (Ser) | Missense Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV001786756.1 | not provided | Benign |
RCV002243463.1 | Weiss-kruszka syndrome | Benign |
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 | C= | T |
---|---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.106927471= | NC_000009.12:g.106927471C>T |
GRCh37.p13 chr 9 | NC_000009.11:g.109689752= | NC_000009.11:g.109689752C>T |
ZNF462 RefSeqGene | NG_052913.1:g.69375= | NG_052913.1:g.69375C>T |
ZNF462 transcript variant 1 | NM_021224.6:c.3559= | NM_021224.6:c.3559C>T |
ZNF462 transcript variant 1 | NM_021224.5:c.3559= | NM_021224.5:c.3559C>T |
ZNF462 transcript | NM_021224.4:c.3559= | NM_021224.4:c.3559C>T |
ZNF462 transcript variant X15 | XM_006717215.5:c.3559= | XM_006717215.5:c.3559C>T |
ZNF462 transcript variant X7 | XM_006717215.4:c.3559= | XM_006717215.4:c.3559C>T |
ZNF462 transcript variant X7 | XM_006717215.3:c.3559= | XM_006717215.3:c.3559C>T |
ZNF462 transcript variant X6 | XM_006717215.2:c.3559= | XM_006717215.2:c.3559C>T |
ZNF462 transcript variant X7 | XM_006717215.1:c.3559= | XM_006717215.1:c.3559C>T |
ZNF462 transcript variant X19 | XM_006717216.5:c.3559= | XM_006717216.5:c.3559C>T |
ZNF462 transcript variant X8 | XM_006717216.4:c.3559= | XM_006717216.4:c.3559C>T |
ZNF462 transcript variant X8 | XM_006717216.3:c.3559= | XM_006717216.3:c.3559C>T |
ZNF462 transcript variant X7 | XM_006717216.2:c.3559= | XM_006717216.2:c.3559C>T |
ZNF462 transcript variant X8 | XM_006717216.1:c.3559= | XM_006717216.1:c.3559C>T |
ZNF462 transcript variant X9 | XM_006717211.5:c.3559= | XM_006717211.5:c.3559C>T |
ZNF462 transcript variant X4 | XM_006717211.4:c.3559= | XM_006717211.4:c.3559C>T |
ZNF462 transcript variant X4 | XM_006717211.3:c.3559= | XM_006717211.3:c.3559C>T |
ZNF462 transcript variant X4 | XM_006717211.2:c.3559= | XM_006717211.2:c.3559C>T |
ZNF462 transcript variant X3 | XM_006717211.1:c.3559= | XM_006717211.1:c.3559C>T |
ZNF462 transcript variant X1 | XM_006717209.5:c.3559= | XM_006717209.5:c.3559C>T |
ZNF462 transcript variant X1 | XM_006717209.4:c.3559= | XM_006717209.4:c.3559C>T |
ZNF462 transcript variant X2 | XM_006717209.3:c.3559= | XM_006717209.3:c.3559C>T |
ZNF462 transcript variant X2 | XM_006717209.2:c.3559= | XM_006717209.2:c.3559C>T |
ZNF462 transcript variant X1 | XM_006717209.1:c.3559= | XM_006717209.1:c.3559C>T |
ZNF462 transcript variant X3 | XM_006717212.5:c.3559= | XM_006717212.5:c.3559C>T |
ZNF462 transcript variant X3 | XM_006717212.4:c.3559= | XM_006717212.4:c.3559C>T |
ZNF462 transcript variant X3 | XM_006717212.3:c.3559= | XM_006717212.3:c.3559C>T |
ZNF462 transcript variant X5 | XM_006717212.2:c.3559= | XM_006717212.2:c.3559C>T |
ZNF462 transcript variant X4 | XM_006717212.1:c.3559= | XM_006717212.1:c.3559C>T |
ZNF462 transcript variant X6 | XM_017014997.3:c.3559= | XM_017014997.3:c.3559C>T |
ZNF462 transcript variant X6 | XM_017014997.2:c.3559= | XM_017014997.2:c.3559C>T |
ZNF462 transcript variant X6 | XM_017014997.1:c.3559= | XM_017014997.1:c.3559C>T |
ZNF462 transcript variant X8 | XM_017014996.3:c.3559= | XM_017014996.3:c.3559C>T |
ZNF462 transcript variant X5 | XM_017014996.2:c.3559= | XM_017014996.2:c.3559C>T |
ZNF462 transcript variant X5 | XM_017014996.1:c.3559= | XM_017014996.1:c.3559C>T |
ZNF462 transcript variant X18 | XM_047423671.1:c.3559= | XM_047423671.1:c.3559C>T |
ZNF462 transcript variant X26 | XM_047423678.1:c.3559= | XM_047423678.1:c.3559C>T |
ZNF462 transcript variant X12 | XM_047423666.1:c.3559= | XM_047423666.1:c.3559C>T |
ZNF462 transcript variant X22 | XM_047423674.1:c.3559= | XM_047423674.1:c.3559C>T |
ZNF462 transcript variant X2 | XM_047423661.1:c.3559= | XM_047423661.1:c.3559C>T |
ZNF462 transcript variant X13 | XM_047423667.1:c.3559= | XM_047423667.1:c.3559C>T |
ZNF462 transcript variant X5 | XM_047423663.1:c.3559= | XM_047423663.1:c.3559C>T |
ZNF462 transcript variant X11 | XM_024447629.1:c.3559= | XM_024447629.1:c.3559C>T |
ZNF462 transcript variant X7 | XM_047423664.1:c.3559= | XM_047423664.1:c.3559C>T |
ZNF462 transcript variant X23 | XM_047423675.1:c.3559= | XM_047423675.1:c.3559C>T |
ZNF462 transcript variant X4 | XM_047423662.1:c.3559= | XM_047423662.1:c.3559C>T |
ZNF462 transcript variant X25 | XM_047423677.1:c.3559= | XM_047423677.1:c.3559C>T |
ZNF462 transcript variant X17 | XM_047423670.1:c.3559= | XM_047423670.1:c.3559C>T |
ZNF462 transcript variant X20 | XM_047423672.1:c.3559= | XM_047423672.1:c.3559C>T |
ZNF462 transcript variant X10 | XM_047423665.1:c.3559= | XM_047423665.1:c.3559C>T |
ZNF462 transcript variant X21 | XM_047423673.1:c.3559= | XM_047423673.1:c.3559C>T |
ZNF462 transcript variant X14 | XM_047423668.1:c.3559= | XM_047423668.1:c.3559C>T |
ZNF462 transcript variant X16 | XM_047423669.1:c.3559= | XM_047423669.1:c.3559C>T |
ZNF462 transcript variant X24 | XM_047423676.1:c.3559= | XM_047423676.1:c.3559C>T |
zinc finger protein 462 isoform 1 | NP_067047.4:p.Pro1187= | NP_067047.4:p.Pro1187Ser |
zinc finger protein 462 isoform X2 | XP_006717278.1:p.Pro1187= | XP_006717278.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_006717279.1:p.Pro1187= | XP_006717279.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_006717274.1:p.Pro1187= | XP_006717274.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_006717272.1:p.Pro1187= | XP_006717272.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_006717275.1:p.Pro1187= | XP_006717275.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_016870486.1:p.Pro1187= | XP_016870486.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_016870485.1:p.Pro1187= | XP_016870485.1:p.Pro1187Ser |
zinc finger protein 462 isoform X2 | XP_047279627.1:p.Pro1187= | XP_047279627.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279634.1:p.Pro1187= | XP_047279634.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279622.1:p.Pro1187= | XP_047279622.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279630.1:p.Pro1187= | XP_047279630.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279617.1:p.Pro1187= | XP_047279617.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279623.1:p.Pro1187= | XP_047279623.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279619.1:p.Pro1187= | XP_047279619.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_024303397.1:p.Pro1187= | XP_024303397.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279620.1:p.Pro1187= | XP_047279620.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279631.1:p.Pro1187= | XP_047279631.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279618.1:p.Pro1187= | XP_047279618.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279633.1:p.Pro1187= | XP_047279633.1:p.Pro1187Ser |
zinc finger protein 462 isoform X2 | XP_047279626.1:p.Pro1187= | XP_047279626.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279628.1:p.Pro1187= | XP_047279628.1:p.Pro1187Ser |
zinc finger protein 462 isoform X1 | XP_047279621.1:p.Pro1187= | XP_047279621.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279629.1:p.Pro1187= | XP_047279629.1:p.Pro1187Ser |
zinc finger protein 462 isoform X2 | XP_047279624.1:p.Pro1187= | XP_047279624.1:p.Pro1187Ser |
zinc finger protein 462 isoform X2 | XP_047279625.1:p.Pro1187= | XP_047279625.1:p.Pro1187Ser |
zinc finger protein 462 isoform X3 | XP_047279632.1:p.Pro1187= | XP_047279632.1:p.Pro1187Ser |
ZNF462 transcript variant 2 | NM_001347997.2:c.3252+307= | NM_001347997.2:c.3252+307C>T |
ZNF462 transcript variant X6 | XM_005252122.1:c.3252+307= | XM_005252122.1:c.3252+307C>T |
ZNF462 transcript variant X32 | XM_017014998.3:c.3252+307= | XM_017014998.3:c.3252+307C>T |
ZNF462 transcript variant X27 | XM_047423679.1:c.3252+307= | XM_047423679.1:c.3252+307C>T |
ZNF462 transcript variant X28 | XM_047423680.1:c.3252+307= | XM_047423680.1:c.3252+307C>T |
ZNF462 transcript variant X29 | XM_047423681.1:c.3252+307= | XM_047423681.1:c.3252+307C>T |
ZNF462 transcript variant X30 | XM_047423682.1:c.3252+307= | XM_047423682.1:c.3252+307C>T |
ZNF462 transcript variant X31 | XM_047423683.1:c.3252+307= | XM_047423683.1:c.3252+307C>T |
ZNF462 transcript variant X33 | XM_047423684.1:c.3252+307= | XM_047423684.1:c.3252+307C>T |
ZNF462 transcript variant X34 | XM_047423685.1:c.3252+307= | XM_047423685.1:c.3252+307C>T |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | YUSUKE | ss5000953 | Aug 28, 2002 (107) |
2 | SC_SNP | ss16140360 | Feb 27, 2004 (120) |
3 | CSHL-HAPMAP | ss17247987 | Feb 27, 2004 (120) |
4 | ABI | ss43897344 | Mar 13, 2006 (126) |
5 | SI_EXO | ss52078294 | Oct 16, 2006 (127) |
6 | ILLUMINA | ss65728023 | Oct 16, 2006 (127) |
7 | ILLUMINA | ss66585679 | Dec 02, 2006 (127) |
8 | ILLUMINA | ss67306056 | Dec 02, 2006 (127) |
9 | ILLUMINA | ss67711225 | Dec 02, 2006 (127) |
10 | PERLEGEN | ss69298988 | May 18, 2007 (127) |
11 | ILLUMINA | ss70784699 | May 25, 2008 (130) |
12 | ILLUMINA | ss71361405 | May 18, 2007 (127) |
13 | ILLUMINA | ss74918752 | Dec 06, 2007 (129) |
14 | ILLUMINA | ss79169364 | Dec 15, 2007 (130) |
15 | KRIBB_YJKIM | ss84196091 | Dec 15, 2007 (130) |
16 | 1000GENOMES | ss108978162 | Jan 23, 2009 (130) |
17 | ILLUMINA | ss122235365 | Dec 01, 2009 (131) |
18 | ILLUMINA | ss154272381 | Dec 01, 2009 (131) |
19 | ILLUMINA | ss159449109 | Dec 01, 2009 (131) |
20 | SEATTLESEQ | ss159718840 | Dec 01, 2009 (131) |
21 | ILLUMINA | ss161104548 | Dec 01, 2009 (131) |
22 | ENSEMBL | ss161684856 | Dec 01, 2009 (131) |
23 | COMPLETE_GENOMICS | ss166795914 | Jul 04, 2010 (132) |
24 | ILLUMINA | ss171677472 | Jul 04, 2010 (132) |
25 | ILLUMINA | ss173651807 | Jul 04, 2010 (132) |
26 | 1000GENOMES | ss224389931 | Jul 14, 2010 (132) |
27 | 1000GENOMES | ss234923976 | Jul 15, 2010 (132) |
28 | 1000GENOMES | ss241679597 | Jul 15, 2010 (132) |
29 | NHLBI-ESP | ss342279734 | May 09, 2011 (134) |
30 | ILLUMINA | ss479403923 | Sep 08, 2015 (146) |
31 | ILLUMINA | ss483388370 | May 04, 2012 (137) |
32 | ILLUMINA | ss485701881 | May 04, 2012 (137) |
33 | 1000GENOMES | ss490982333 | May 04, 2012 (137) |
34 | EXOME_CHIP | ss491425960 | May 04, 2012 (137) |
35 | CLINSEQ_SNP | ss491940519 | May 04, 2012 (137) |
36 | ILLUMINA | ss535600862 | Sep 08, 2015 (146) |
37 | SSMP | ss656052795 | Apr 25, 2013 (138) |
38 | ILLUMINA | ss779505710 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss780879235 | Sep 08, 2015 (146) |
40 | ILLUMINA | ss782137359 | Sep 08, 2015 (146) |
41 | ILLUMINA | ss783564827 | Sep 08, 2015 (146) |
42 | ILLUMINA | ss825499882 | Jul 19, 2016 (147) |
43 | ILLUMINA | ss832960665 | Jul 13, 2019 (153) |
44 | ILLUMINA | ss834976000 | Sep 08, 2015 (146) |
45 | EVA-GONL | ss986855355 | Aug 21, 2014 (142) |
46 | JMKIDD_LAB | ss1067505766 | Aug 21, 2014 (142) |
47 | JMKIDD_LAB | ss1076515902 | Aug 21, 2014 (142) |
48 | 1000GENOMES | ss1334985035 | Aug 21, 2014 (142) |
49 | HAMMER_LAB | ss1397564200 | Sep 08, 2015 (146) |
50 | DDI | ss1431924658 | Apr 01, 2015 (144) |
51 | EVA_FINRISK | ss1584063666 | Apr 01, 2015 (144) |
52 | EVA_DECODE | ss1596492159 | Apr 01, 2015 (144) |
53 | EVA_UK10K_ALSPAC | ss1623305917 | Apr 01, 2015 (144) |
54 | EVA_UK10K_TWINSUK | ss1666299950 | Apr 01, 2015 (144) |
55 | EVA_EXAC | ss1689593324 | Apr 01, 2015 (144) |
56 | EVA_MGP | ss1711232450 | Apr 01, 2015 (144) |
57 | EVA_SVP | ss1713130394 | Apr 01, 2015 (144) |
58 | ILLUMINA | ss1752752371 | Sep 08, 2015 (146) |
59 | ILLUMINA | ss1917839023 | Feb 12, 2016 (147) |
60 | WEILL_CORNELL_DGM | ss1930170168 | Feb 12, 2016 (147) |
61 | ILLUMINA | ss1946265197 | Feb 12, 2016 (147) |
62 | ILLUMINA | ss1959204428 | Feb 12, 2016 (147) |
63 | GENOMED | ss1971279890 | Jul 19, 2016 (147) |
64 | JJLAB | ss2025803986 | Sep 14, 2016 (149) |
65 | USC_VALOUEV | ss2154032095 | Dec 20, 2016 (150) |
66 | HUMAN_LONGEVITY | ss2313448256 | Dec 20, 2016 (150) |
67 | SYSTEMSBIOZJU | ss2627369711 | Nov 08, 2017 (151) |
68 | ILLUMINA | ss2634900570 | Nov 08, 2017 (151) |
69 | ILLUMINA | ss2635197915 | Nov 08, 2017 (151) |
70 | GRF | ss2709908777 | Nov 08, 2017 (151) |
71 | GNOMAD | ss2737773016 | Nov 08, 2017 (151) |
72 | GNOMAD | ss2748238057 | Nov 08, 2017 (151) |
73 | GNOMAD | ss2881880702 | Nov 08, 2017 (151) |
74 | AFFY | ss2985469213 | Nov 08, 2017 (151) |
75 | AFFY | ss2986116483 | Nov 08, 2017 (151) |
76 | SWEGEN | ss3005398998 | Nov 08, 2017 (151) |
77 | ILLUMINA | ss3022952435 | Nov 08, 2017 (151) |
78 | BIOINF_KMB_FNS_UNIBA | ss3026683232 | Nov 08, 2017 (151) |
79 | CSHL | ss3348803537 | Nov 08, 2017 (151) |
80 | ILLUMINA | ss3630326483 | Oct 12, 2018 (152) |
81 | ILLUMINA | ss3630326484 | Oct 12, 2018 (152) |
82 | ILLUMINA | ss3632790838 | Oct 12, 2018 (152) |
83 | ILLUMINA | ss3635226222 | Oct 12, 2018 (152) |
84 | ILLUMINA | ss3636974688 | Oct 12, 2018 (152) |
85 | ILLUMINA | ss3638828560 | Oct 12, 2018 (152) |
86 | ILLUMINA | ss3639419587 | Oct 12, 2018 (152) |
87 | ILLUMINA | ss3639743309 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3640933512 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3643754310 | Oct 12, 2018 (152) |
90 | ILLUMINA | ss3644998521 | Oct 12, 2018 (152) |
91 | OMUKHERJEE_ADBS | ss3646396096 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3653506153 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3654234188 | Oct 12, 2018 (152) |
94 | EGCUT_WGS | ss3672936213 | Jul 13, 2019 (153) |
95 | EVA_DECODE | ss3724516451 | Jul 13, 2019 (153) |
96 | ILLUMINA | ss3726632303 | Jul 13, 2019 (153) |
97 | ACPOP | ss3736772328 | Jul 13, 2019 (153) |
98 | ILLUMINA | ss3744591770 | Jul 13, 2019 (153) |
99 | ILLUMINA | ss3745526144 | Jul 13, 2019 (153) |
100 | EVA | ss3769541036 | Jul 13, 2019 (153) |
101 | PAGE_CC | ss3771516425 | Jul 13, 2019 (153) |
102 | ILLUMINA | ss3773018045 | Jul 13, 2019 (153) |
103 | KHV_HUMAN_GENOMES | ss3812709932 | Jul 13, 2019 (153) |
104 | EVA | ss3824451454 | Apr 26, 2020 (154) |
105 | EVA | ss3825759687 | Apr 26, 2020 (154) |
106 | EVA | ss3831798913 | Apr 26, 2020 (154) |
107 | EVA | ss3839427144 | Apr 26, 2020 (154) |
108 | EVA | ss3844891351 | Apr 26, 2020 (154) |
109 | HGDP | ss3847957987 | Apr 26, 2020 (154) |
110 | SGDP_PRJ | ss3872825742 | Apr 26, 2020 (154) |
111 | KRGDB | ss3920670897 | Apr 26, 2020 (154) |
112 | FSA-LAB | ss3984424963 | Apr 26, 2021 (155) |
113 | FSA-LAB | ss3984424964 | Apr 26, 2021 (155) |
114 | EVA | ss3984623913 | Apr 26, 2021 (155) |
115 | EVA | ss3985436688 | Apr 26, 2021 (155) |
116 | EVA | ss3986456064 | Apr 26, 2021 (155) |
117 | EVA | ss4017452114 | Apr 26, 2021 (155) |
118 | TOPMED | ss4831511752 | Apr 26, 2021 (155) |
119 | TOMMO_GENOMICS | ss5194758843 | Apr 26, 2021 (155) |
120 | EVA | ss5237050678 | Apr 26, 2021 (155) |
121 | 1000G_HIGH_COVERAGE | ss5281769278 | Oct 16, 2022 (156) |
122 | EVA | ss5315423020 | Oct 16, 2022 (156) |
123 | EVA | ss5389494355 | Oct 16, 2022 (156) |
124 | HUGCELL_USP | ss5477673479 | Oct 16, 2022 (156) |
125 | EVA | ss5509809419 | Oct 16, 2022 (156) |
126 | 1000G_HIGH_COVERAGE | ss5574623836 | Oct 16, 2022 (156) |
127 | EVA | ss5624186357 | Oct 16, 2022 (156) |
128 | SANFORD_IMAGENETICS | ss5648033915 | Oct 16, 2022 (156) |
129 | TOMMO_GENOMICS | ss5739130460 | Oct 16, 2022 (156) |
130 | YY_MCH | ss5810901004 | Oct 16, 2022 (156) |
131 | EVA | ss5829585251 | Oct 16, 2022 (156) |
132 | EVA | ss5848214730 | Oct 16, 2022 (156) |
133 | EVA | ss5848727092 | Oct 16, 2022 (156) |
134 | EVA | ss5856884894 | Oct 16, 2022 (156) |
135 | EVA | ss5917547327 | Oct 16, 2022 (156) |
136 | EVA | ss5936542049 | Oct 16, 2022 (156) |
137 | EVA | ss5977228764 | Oct 16, 2022 (156) |
138 | EVA | ss5980570138 | Oct 16, 2022 (156) |
139 | 1000Genomes | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
140 | 1000Genomes_30x | NC_000009.12 - 106927471 | Oct 16, 2022 (156) |
141 | The Avon Longitudinal Study of Parents and Children | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
142 | Genome-wide autozygosity in Daghestan | NC_000009.10 - 108729573 | Apr 26, 2020 (154) |
143 | Genetic variation in the Estonian population | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
144 | ExAC | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
145 | FINRISK | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
146 | gnomAD - Genomes | NC_000009.12 - 106927471 | Apr 26, 2021 (155) |
147 | gnomAD - Exomes | NC_000009.11 - 109689752 | Jul 13, 2019 (153) |
148 | GO Exome Sequencing Project | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
149 | Genome of the Netherlands Release 5 | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
150 | HGDP-CEPH-db Supplement 1 | NC_000009.10 - 108729573 | Apr 26, 2020 (154) |
151 | HapMap | NC_000009.12 - 106927471 | Apr 26, 2020 (154) |
152 | KOREAN population from KRGDB | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
153 | Medical Genome Project healthy controls from Spanish population | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
154 | Northern Sweden | NC_000009.11 - 109689752 | Jul 13, 2019 (153) |
155 | The PAGE Study | NC_000009.12 - 106927471 | Jul 13, 2019 (153) |
156 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000009.11 - 109689752 | Apr 26, 2021 (155) |
157 | CNV burdens in cranial meningiomas | NC_000009.11 - 109689752 | Apr 26, 2021 (155) |
158 | Qatari | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
159 | SGDP_PRJ | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
160 | Siberian | NC_000009.11 - 109689752 | Apr 26, 2020 (154) |
161 | 8.3KJPN | NC_000009.11 - 109689752 | Apr 26, 2021 (155) |
162 | 14KJPN | NC_000009.12 - 106927471 | Oct 16, 2022 (156) |
163 | TopMed | NC_000009.12 - 106927471 | Apr 26, 2021 (155) |
164 | UK 10K study - Twins | NC_000009.11 - 109689752 | Oct 12, 2018 (152) |
165 | ALFA | NC_000009.12 - 106927471 | Apr 26, 2021 (155) |
166 | ClinVar | RCV001786756.1 | Oct 16, 2022 (156) |
167 | ClinVar | RCV002243463.1 | Oct 16, 2022 (156) |
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) |
---|---|
rs59869283 | May 25, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss3639419587, ss3639743309 | NC_000009.9:106769306:C:T | NC_000009.12:106927470:C:T | (self) |
537616, 635879, ss108978162, ss166795914, ss485701881, ss491940519, ss825499882, ss1397564200, ss1596492159, ss1713130394, ss2635197915, ss3643754310, ss3847957987 | NC_000009.10:108729572:C:T | NC_000009.12:106927470:C:T | (self) |
47286228, 26265658, 18674461, 9724865, 60127, 6959222, 909220, 11723960, 27848291, 348210, 10057193, 662615, 173363, 12212098, 24842722, 6548449, 52728150, 26265658, ss224389931, ss234923976, ss241679597, ss342279734, ss479403923, ss483388370, ss490982333, ss491425960, ss535600862, ss656052795, ss779505710, ss780879235, ss782137359, ss783564827, ss832960665, ss834976000, ss986855355, ss1067505766, ss1076515902, ss1334985035, ss1431924658, ss1584063666, ss1623305917, ss1666299950, ss1689593324, ss1711232450, ss1752752371, ss1917839023, ss1930170168, ss1946265197, ss1959204428, ss1971279890, ss2025803986, ss2154032095, ss2627369711, ss2634900570, ss2709908777, ss2737773016, ss2748238057, ss2881880702, ss2985469213, ss2986116483, ss3005398998, ss3022952435, ss3348803537, ss3630326483, ss3630326484, ss3632790838, ss3635226222, ss3636974688, ss3638828560, ss3640933512, ss3644998521, ss3646396096, ss3653506153, ss3654234188, ss3672936213, ss3736772328, ss3744591770, ss3745526144, ss3769541036, ss3773018045, ss3824451454, ss3825759687, ss3831798913, ss3839427144, ss3872825742, ss3920670897, ss3984424963, ss3984424964, ss3984623913, ss3985436688, ss3986456064, ss4017452114, ss5194758843, ss5315423020, ss5389494355, ss5509809419, ss5624186357, ss5648033915, ss5829585251, ss5848214730, ss5848727092, ss5936542049, ss5977228764, ss5980570138 | NC_000009.11:109689751:C:T | NC_000009.12:106927470:C:T | (self) |
RCV001786756.1, RCV002243463.1, 62149771, 334247207, 3890612, 737894, 72967564, 668889313, 8168036981, ss2313448256, ss3026683232, ss3724516451, ss3726632303, ss3771516425, ss3812709932, ss3844891351, ss4831511752, ss5237050678, ss5281769278, ss5477673479, ss5574623836, ss5739130460, ss5810901004, ss5856884894, ss5917547327 | NC_000009.12:106927470:C:T | NC_000009.12:106927470:C:T | (self) |
ss16140360, ss17247987 | NT_008470.16:11351279:C:T | NC_000009.12:106927470:C:T | (self) |
ss52078294 | NT_008470.17:17010956:C:T | NC_000009.12:106927470:C:T | (self) |
ss5000953, ss43897344, ss65728023, ss66585679, ss67306056, ss67711225, ss69298988, ss70784699, ss71361405, ss74918752, ss79169364, ss84196091, ss122235365, ss154272381, ss159449109, ss159718840, ss161104548, ss161684856, ss171677472, ss173651807 | NT_008470.19:38854283:C:T | NC_000009.12:106927470:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs3814541
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
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.