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.
rs2076295
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:7562999 (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
- T>A / T>C / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.464944 (123066/264690, TOPMED)G=0.447954 (89941/200782, ALFA)G=0.457758 (64076/139978, GnomAD) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- DSP : Intron Variant
- Publications
- 11 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 | 200782 | T=0.552046 | G=0.447954 | 0.308394 | 0.204301 | 0.487305 | 12 |
| European | Sub | 172900 | T=0.550567 | G=0.449433 | 0.306431 | 0.205298 | 0.488271 | 9 |
| African | Sub | 7524 | T=0.4813 | G=0.5187 | 0.233121 | 0.270601 | 0.496279 | 0 |
| African Others | Sub | 264 | T=0.492 | G=0.508 | 0.25 | 0.265152 | 0.484848 | 0 |
| African American | Sub | 7260 | T=0.4809 | G=0.5191 | 0.232507 | 0.270799 | 0.496694 | 0 |
| Asian | Sub | 736 | T=0.568 | G=0.432 | 0.3125 | 0.17663 | 0.51087 | 0 |
| East Asian | Sub | 590 | T=0.554 | G=0.446 | 0.281356 | 0.172881 | 0.545763 | 2 |
| Other Asian | Sub | 146 | T=0.623 | G=0.377 | 0.438356 | 0.191781 | 0.369863 | 2 |
| Latin American 1 | Sub | 844 | T=0.563 | G=0.437 | 0.310427 | 0.184834 | 0.504739 | 0 |
| Latin American 2 | Sub | 6872 | T=0.5712 | G=0.4288 | 0.324796 | 0.18248 | 0.492724 | 0 |
| South Asian | Sub | 5044 | T=0.6642 | G=0.3358 | 0.452419 | 0.124108 | 0.423473 | 4 |
| Other | Sub | 6862 | T=0.5624 | G=0.4376 | 0.3174 | 0.192655 | 0.489945 | 0 |
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 | T=0.535056 | G=0.464944 |
| Allele Frequency Aggregator | Total | Global | 200782 | T=0.552046 | G=0.447954 |
| Allele Frequency Aggregator | European | Sub | 172900 | T=0.550567 | G=0.449433 |
| Allele Frequency Aggregator | African | Sub | 7524 | T=0.4813 | G=0.5187 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6872 | T=0.5712 | G=0.4288 |
| Allele Frequency Aggregator | Other | Sub | 6862 | T=0.5624 | G=0.4376 |
| Allele Frequency Aggregator | South Asian | Sub | 5044 | T=0.6642 | G=0.3358 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 844 | T=0.563 | G=0.437 |
| Allele Frequency Aggregator | Asian | Sub | 736 | T=0.568 | G=0.432 |
| gnomAD - Genomes | Global | Study-wide | 139978 | T=0.542242 | G=0.457758 |
| gnomAD - Genomes | European | Sub | 75822 | T=0.56047 | G=0.43953 |
| gnomAD - Genomes | African | Sub | 41912 | T=0.48714 | G=0.51286 |
| gnomAD - Genomes | American | Sub | 13644 | T=0.60261 | G=0.39739 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=0.5842 | G=0.4158 |
| gnomAD - Genomes | East Asian | Sub | 3122 | T=0.5304 | G=0.4696 |
| gnomAD - Genomes | Other | Sub | 2154 | T=0.5427 | G=0.4573 |
| The PAGE Study | Global | Study-wide | 78700 | T=0.52879 | G=0.47121 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | T=0.49154 | G=0.50846 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.57743 | G=0.42257 |
| The PAGE Study | Asian | Sub | 8318 | T=0.5172 | G=0.4828 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.5386 | G=0.4614 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.5878 | G=0.4122 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.5397 | G=0.4603 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.5337 | G=0.4663 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.5849 | G=0.4151 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.5989 | G=0.4011 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.5159 | G=0.4841 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.659 | G=0.341 |
| 14KJPN | JAPANESE | Study-wide | 28258 | T=0.50563 | G=0.49437 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.50943 | G=0.49057 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.5665 | G=0.4335 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.4871 | G=0.5129 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.5806 | G=0.4194 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.6864 | G=0.3136 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.5419 | G=0.4581 |
| 1000Genomes_30x | American | Sub | 980 | T=0.576 | G=0.424 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.5673 | G=0.4327 |
| 1000Genomes | African | Sub | 1322 | T=0.4879 | G=0.5121 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.5288 | G=0.4712 |
| 1000Genomes | Europe | Sub | 1006 | T=0.5855 | G=0.4145 |
| 1000Genomes | South Asian | Sub | 978 | T=0.687 | G=0.313 |
| 1000Genomes | American | Sub | 694 | T=0.579 | G=0.421 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.5603 | G=0.4397 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.5560 | G=0.4440 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.5504 | G=0.4496 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.4706 | A=0.0000, C=0.0000, G=0.5294 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2074 | T=0.5834 | G=0.4166 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | T=0.538 | G=0.462 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | T=0.720 | G=0.280 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 348 | T=0.641 | G=0.359 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | T=0.528 | G=0.472 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 236 | T=0.369 | G=0.631 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | T=0.532 | G=0.468 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | T=0.92 | G=0.08 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.4820 | G=0.5180 |
| HapMap | Global | Study-wide | 1788 | T=0.5246 | G=0.4754 |
| HapMap | African | Sub | 688 | T=0.451 | G=0.549 |
| HapMap | American | Sub | 670 | T=0.572 | G=0.428 |
| HapMap | Asian | Sub | 254 | T=0.524 | G=0.476 |
| HapMap | Europe | Sub | 176 | T=0.636 | G=0.364 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.568 | G=0.432 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 786 | T=0.525 | G=0.475 |
| CNV burdens in cranial meningiomas | CRM | Sub | 786 | T=0.525 | G=0.475 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.605 | G=0.395 |
| SGDP_PRJ | Global | Study-wide | 340 | T=0.359 | G=0.641 |
| Qatari | Global | Study-wide | 216 | T=0.681 | G=0.319 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | T=0.528 | G=0.472 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 60 | T=0.70 | G=0.30 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.55 | G=0.45 |
| Siberian | Global | Study-wide | 32 | T=0.31 | G=0.69 |
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 6 | NC_000006.12:g.7562999T>A |
| GRCh38.p14 chr 6 | NC_000006.12:g.7562999T>C |
| GRCh38.p14 chr 6 | NC_000006.12:g.7562999T>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.7563232T>A |
| GRCh37.p13 chr 6 | NC_000006.11:g.7563232T>C |
| GRCh37.p13 chr 6 | NC_000006.11:g.7563232T>G |
| DSP RefSeqGene (LRG_423) | NG_008803.1:g.26363T>A |
| DSP RefSeqGene (LRG_423) | NG_008803.1:g.26363T>C |
| DSP RefSeqGene (LRG_423) | NG_008803.1:g.26363T>G |
Gene: DSP, desmoplakin
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DSP transcript variant 2 |
NM_001008844.3:c.726+219T… NM_001008844.3:c.726+219T>A |
N/A | Intron Variant |
| DSP transcript variant 3 |
NM_001319034.2:c.726+219T… NM_001319034.2:c.726+219T>A |
N/A | Intron Variant |
| DSP transcript variant 1 | NM_004415.4:c.726+219T>A | N/A | Intron 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: G (allele ID:
662311
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000831348.1 | not provided | Benign |
| RCV001788366.1 | Idiopathic Pulmonary Fibrosis | Association |
| RCV001788367.1 | Chronic obstructive pulmonary disease | Uncertain-Significance |
| RCV001788368.1 | Combined pulmonary fibrosis-emphysema syndrome | Association |
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 | T= | A | C | G |
|---|---|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.7562999= | NC_000006.12:g.7562999T>A | NC_000006.12:g.7562999T>C | NC_000006.12:g.7562999T>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.7563232= | NC_000006.11:g.7563232T>A | NC_000006.11:g.7563232T>C | NC_000006.11:g.7563232T>G |
| DSP RefSeqGene (LRG_423) | NG_008803.1:g.26363= | NG_008803.1:g.26363T>A | NG_008803.1:g.26363T>C | NG_008803.1:g.26363T>G |
| DSP transcript variant 2 | NM_001008844.1:c.726+219= | NM_001008844.1:c.726+219T>A | NM_001008844.1:c.726+219T>C | NM_001008844.1:c.726+219T>G |
| DSP transcript variant 2 | NM_001008844.3:c.726+219= | NM_001008844.3:c.726+219T>A | NM_001008844.3:c.726+219T>C | NM_001008844.3:c.726+219T>G |
| DSP transcript variant 3 | NM_001319034.2:c.726+219= | NM_001319034.2:c.726+219T>A | NM_001319034.2:c.726+219T>C | NM_001319034.2:c.726+219T>G |
| DSP transcript variant 1 | NM_004415.2:c.726+219= | NM_004415.2:c.726+219T>A | NM_004415.2:c.726+219T>C | NM_004415.2:c.726+219T>G |
| DSP transcript variant 1 | NM_004415.4:c.726+219= | NM_004415.4:c.726+219T>A | NM_004415.4:c.726+219T>C | NM_004415.4:c.726+219T>G |
| DSP transcript variant X1 | XM_005248864.1:c.726+219= | XM_005248864.1:c.726+219T>A | XM_005248864.1:c.726+219T>C | XM_005248864.1:c.726+219T>G |
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#.
134 SubSNP,
24 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss2991661 | Jun 15, 2001 (96) |
| 2 | HGBASE | ss3185060 | Aug 15, 2001 (98) |
| 3 | CSHL-HAPMAP | ss17119452 | Feb 27, 2004 (120) |
| 4 | SSAHASNP | ss22492847 | Apr 05, 2004 (121) |
| 5 | PERLEGEN | ss24337062 | Sep 20, 2004 (123) |
| 6 | ABI | ss44764107 | Mar 15, 2006 (126) |
| 7 | ILLUMINA | ss67222984 | Dec 01, 2006 (127) |
| 8 | ILLUMINA | ss67617468 | Dec 01, 2006 (127) |
| 9 | ILLUMINA | ss68195853 | Dec 12, 2006 (127) |
| 10 | PERLEGEN | ss68964234 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss70701275 | May 23, 2008 (130) |
| 12 | ILLUMINA | ss71267362 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss75632796 | Dec 06, 2007 (129) |
| 14 | HGSV | ss80106940 | Dec 14, 2007 (130) |
| 15 | KRIBB_YJKIM | ss83967354 | Dec 14, 2007 (130) |
| 16 | HUMANGENOME_JCVI | ss98363987 | Feb 03, 2009 (130) |
| 17 | BGI | ss105978016 | Feb 03, 2009 (130) |
| 18 | 1000GENOMES | ss109731577 | Jan 24, 2009 (130) |
| 19 | 1000GENOMES | ss113862177 | Jan 25, 2009 (130) |
| 20 | ILLUMINA-UK | ss116292160 | Feb 14, 2009 (130) |
| 21 | ENSEMBL | ss144161681 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss153847632 | Dec 01, 2009 (131) |
| 23 | GMI | ss156496676 | Dec 01, 2009 (131) |
| 24 | ILLUMINA | ss159356897 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss160499443 | Dec 01, 2009 (131) |
| 26 | COMPLETE_GENOMICS | ss163112265 | Jul 04, 2010 (132) |
| 27 | COMPLETE_GENOMICS | ss166102020 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss173103344 | Jul 04, 2010 (132) |
| 29 | BUSHMAN | ss201386483 | Jul 04, 2010 (132) |
| 30 | BCM-HGSC-SUB | ss207402713 | Jul 04, 2010 (132) |
| 31 | 1000GENOMES | ss222193957 | Jul 14, 2010 (132) |
| 32 | 1000GENOMES | ss233312798 | Jul 14, 2010 (132) |
| 33 | 1000GENOMES | ss240400369 | Jul 15, 2010 (132) |
| 34 | GMI | ss278641843 | May 04, 2012 (137) |
| 35 | PJP | ss293672103 | May 09, 2011 (134) |
| 36 | ILLUMINA | ss410919159 | Sep 17, 2011 (135) |
| 37 | ILLUMINA | ss480415329 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss480428783 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss481212417 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss485005184 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss537035716 | Sep 08, 2015 (146) |
| 42 | TISHKOFF | ss558987194 | Apr 25, 2013 (138) |
| 43 | SSMP | ss652896214 | Apr 25, 2013 (138) |
| 44 | ILLUMINA | ss778853684 | Aug 21, 2014 (142) |
| 45 | ILLUMINA | ss782948911 | Aug 21, 2014 (142) |
| 46 | ILLUMINA | ss783911227 | Aug 21, 2014 (142) |
| 47 | ILLUMINA | ss832204798 | Apr 01, 2015 (144) |
| 48 | ILLUMINA | ss832868804 | Aug 21, 2014 (142) |
| 49 | ILLUMINA | ss833459634 | Aug 21, 2014 (142) |
| 50 | ILLUMINA | ss834314371 | Aug 21, 2014 (142) |
| 51 | EVA-GONL | ss982556007 | Aug 21, 2014 (142) |
| 52 | JMKIDD_LAB | ss1073359850 | Aug 21, 2014 (142) |
| 53 | 1000GENOMES | ss1318862642 | Aug 21, 2014 (142) |
| 54 | DDI | ss1430629265 | Apr 01, 2015 (144) |
| 55 | EVA_GENOME_DK | ss1581520851 | Apr 01, 2015 (144) |
| 56 | EVA_DECODE | ss1592103200 | Apr 01, 2015 (144) |
| 57 | EVA_UK10K_ALSPAC | ss1614891323 | Apr 01, 2015 (144) |
| 58 | EVA_UK10K_TWINSUK | ss1657885356 | Apr 01, 2015 (144) |
| 59 | EVA_SVP | ss1712833549 | Apr 01, 2015 (144) |
| 60 | ILLUMINA | ss1752647451 | Sep 08, 2015 (146) |
| 61 | HAMMER_LAB | ss1804268236 | Sep 08, 2015 (146) |
| 62 | WEILL_CORNELL_DGM | ss1925814122 | Feb 12, 2016 (147) |
| 63 | ILLUMINA | ss1958860620 | Feb 12, 2016 (147) |
| 64 | GENOMED | ss1970303763 | Jul 19, 2016 (147) |
| 65 | JJLAB | ss2023522711 | Sep 14, 2016 (149) |
| 66 | USC_VALOUEV | ss2151685405 | Dec 20, 2016 (150) |
| 67 | HUMAN_LONGEVITY | ss2281554108 | Dec 20, 2016 (150) |
| 68 | SYSTEMSBIOZJU | ss2626249135 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss2634396336 | Nov 08, 2017 (151) |
| 70 | GRF | ss2707270971 | Nov 08, 2017 (151) |
| 71 | GNOMAD | ss2835484207 | Nov 08, 2017 (151) |
| 72 | AFFY | ss2985980675 | Nov 08, 2017 (151) |
| 73 | SWEGEN | ss2998472237 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss3022572222 | Nov 08, 2017 (151) |
| 75 | BIOINF_KMB_FNS_UNIBA | ss3025545834 | Nov 08, 2017 (151) |
| 76 | CSHL | ss3346823958 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss3629437818 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3632316813 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3633405124 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3634127094 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3635043052 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3635808443 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3636757752 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3637561158 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3638605477 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3639305446 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3639949215 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3640750347 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3643547376 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3643994346 | Oct 12, 2018 (152) |
| 91 | URBANLAB | ss3648262819 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3653080178 | Oct 12, 2018 (152) |
| 93 | EGCUT_WGS | ss3666396582 | Jul 13, 2019 (153) |
| 94 | EVA_DECODE | ss3716529247 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3726308096 | Jul 13, 2019 (153) |
| 96 | ACPOP | ss3733179333 | Jul 13, 2019 (153) |
| 97 | ILLUMINA | ss3745343160 | Jul 13, 2019 (153) |
| 98 | EVA | ss3764579035 | Jul 13, 2019 (153) |
| 99 | PAGE_CC | ss3771260666 | Jul 13, 2019 (153) |
| 100 | ILLUMINA | ss3772836978 | Jul 13, 2019 (153) |
| 101 | PACBIO | ss3785364946 | Jul 13, 2019 (153) |
| 102 | PACBIO | ss3790731715 | Jul 13, 2019 (153) |
| 103 | PACBIO | ss3795608927 | Jul 13, 2019 (153) |
| 104 | KHV_HUMAN_GENOMES | ss3807740511 | Jul 13, 2019 (153) |
| 105 | EVA | ss3829717617 | Apr 26, 2020 (154) |
| 106 | EVA | ss3838333686 | Apr 26, 2020 (154) |
| 107 | EVA | ss3843773729 | Apr 26, 2020 (154) |
| 108 | HGDP | ss3847821875 | Apr 26, 2020 (154) |
| 109 | SGDP_PRJ | ss3863861767 | Apr 26, 2020 (154) |
| 110 | KRGDB | ss3910599898 | Apr 26, 2020 (154) |
| 111 | KOGIC | ss3958448398 | Apr 26, 2020 (154) |
| 112 | EVA | ss3984561038 | Apr 26, 2021 (155) |
| 113 | EVA | ss3985197790 | Apr 26, 2021 (155) |
| 114 | EVA | ss4017253704 | Apr 26, 2021 (155) |
| 115 | TOPMED | ss4692740030 | Apr 26, 2021 (155) |
| 116 | TOMMO_GENOMICS | ss5176036531 | Apr 26, 2021 (155) |
| 117 | EVA | ss5237387814 | Apr 26, 2021 (155) |
| 118 | 1000G_HIGH_COVERAGE | ss5267304540 | Oct 13, 2022 (156) |
| 119 | EVA | ss5315119917 | Oct 13, 2022 (156) |
| 120 | EVA | ss5363633720 | Oct 13, 2022 (156) |
| 121 | HUGCELL_USP | ss5465104822 | Oct 13, 2022 (156) |
| 122 | 1000G_HIGH_COVERAGE | ss5552682772 | Oct 13, 2022 (156) |
| 123 | SANFORD_IMAGENETICS | ss5624614022 | Oct 13, 2022 (156) |
| 124 | SANFORD_IMAGENETICS | ss5639713112 | Oct 13, 2022 (156) |
| 125 | TOMMO_GENOMICS | ss5713668258 | Oct 13, 2022 (156) |
| 126 | EVA | ss5799675262 | Oct 13, 2022 (156) |
| 127 | YY_MCH | ss5807127925 | Oct 13, 2022 (156) |
| 128 | EVA | ss5841756004 | Oct 13, 2022 (156) |
| 129 | EVA | ss5848079907 | Oct 13, 2022 (156) |
| 130 | EVA | ss5855190404 | Oct 13, 2022 (156) |
| 131 | EVA | ss5882543677 | Oct 13, 2022 (156) |
| 132 | EVA | ss5968208900 | Oct 13, 2022 (156) |
| 133 | EVA | ss5979769226 | Oct 13, 2022 (156) |
| 134 | EVA | ss5980341730 | Oct 13, 2022 (156) |
| 135 | 1000Genomes | NC_000006.11 - 7563232 | Oct 12, 2018 (152) |
| 136 | 1000Genomes_30x | NC_000006.12 - 7562999 | Oct 13, 2022 (156) |
| 137 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 7563232 | Oct 12, 2018 (152) |
| 138 | Genetic variation in the Estonian population | NC_000006.11 - 7563232 | Oct 12, 2018 (152) |
| 139 | The Danish reference pan genome | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 140 | gnomAD - Genomes | NC_000006.12 - 7562999 | Apr 26, 2021 (155) |
| 141 | Genome of the Netherlands Release 5 | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 142 | HGDP-CEPH-db Supplement 1 | NC_000006.10 - 7508231 | Apr 26, 2020 (154) |
| 143 | HapMap | NC_000006.12 - 7562999 | Apr 26, 2020 (154) |
| 144 | KOREAN population from KRGDB | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 145 | Korean Genome Project | NC_000006.12 - 7562999 | Apr 26, 2020 (154) |
| 146 | Northern Sweden | NC_000006.11 - 7563232 | Jul 13, 2019 (153) |
| 147 | The PAGE Study | NC_000006.12 - 7562999 | Jul 13, 2019 (153) |
| 148 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000006.11 - 7563232 | Apr 26, 2021 (155) |
| 149 | CNV burdens in cranial meningiomas | NC_000006.11 - 7563232 | Apr 26, 2021 (155) |
| 150 | Qatari | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 151 | SGDP_PRJ | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 152 | Siberian | NC_000006.11 - 7563232 | Apr 26, 2020 (154) |
| 153 | 8.3KJPN | NC_000006.11 - 7563232 | Apr 26, 2021 (155) |
| 154 | 14KJPN | NC_000006.12 - 7562999 | Oct 13, 2022 (156) |
| 155 | TopMed | NC_000006.12 - 7562999 | Apr 26, 2021 (155) |
| 156 | UK 10K study - Twins | NC_000006.11 - 7563232 | Oct 12, 2018 (152) |
| 157 | A Vietnamese Genetic Variation Database | NC_000006.11 - 7563232 | Jul 13, 2019 (153) |
| 158 | ALFA | NC_000006.12 - 7562999 | Apr 26, 2021 (155) |
| 159 | ClinVar | RCV000831348.1 | Apr 26, 2020 (154) |
| 160 | ClinVar | RCV001788366.1 | Oct 13, 2022 (156) |
| 161 | ClinVar | RCV001788367.1 | Oct 13, 2022 (156) |
| 162 | ClinVar | RCV001788368.1 | Oct 13, 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) |
|---|---|
| rs17336960 | Oct 08, 2004 (123) |
| rs56876573 | May 23, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 17777292, ss3910599898 | NC_000006.11:7563231:T:A | NC_000006.12:7562998:T:A | (self) |
| 17777292, ss3910599898 | NC_000006.11:7563231:T:C | NC_000006.12:7562998:T:C | (self) |
| ss80106940, ss3639305446, ss3639949215, ss3643994346 | NC_000006.9:7508230:T:G | NC_000006.12:7562998:T:G | (self) |
| 499767, ss109731577, ss113862177, ss116292160, ss160499443, ss163112265, ss166102020, ss201386483, ss207402713, ss278641843, ss293672103, ss410919159, ss480415329, ss1592103200, ss1712833549, ss3643547376, ss3847821875 | NC_000006.10:7508230:T:G | NC_000006.12:7562998:T:G | (self) |
| 30601308, 17037364, 12134830, 7685790, 7561719, 17777292, 6464198, 423717, 110413, 7856052, 15878747, 4201759, 34005838, 17037364, 3772691, ss222193957, ss233312798, ss240400369, ss480428783, ss481212417, ss485005184, ss537035716, ss558987194, ss652896214, ss778853684, ss782948911, ss783911227, ss832204798, ss832868804, ss833459634, ss834314371, ss982556007, ss1073359850, ss1318862642, ss1430629265, ss1581520851, ss1614891323, ss1657885356, ss1752647451, ss1804268236, ss1925814122, ss1958860620, ss1970303763, ss2023522711, ss2151685405, ss2626249135, ss2634396336, ss2707270971, ss2835484207, ss2985980675, ss2998472237, ss3022572222, ss3346823958, ss3629437818, ss3632316813, ss3633405124, ss3634127094, ss3635043052, ss3635808443, ss3636757752, ss3637561158, ss3638605477, ss3640750347, ss3653080178, ss3666396582, ss3733179333, ss3745343160, ss3764579035, ss3772836978, ss3785364946, ss3790731715, ss3795608927, ss3829717617, ss3838333686, ss3863861767, ss3910599898, ss3984561038, ss3985197790, ss4017253704, ss5176036531, ss5237387814, ss5315119917, ss5363633720, ss5624614022, ss5639713112, ss5799675262, ss5841756004, ss5848079907, ss5968208900, ss5979769226, ss5980341730 | NC_000006.11:7563231:T:G | NC_000006.12:7562998:T:G | (self) |
| RCV000831348.1, RCV001788366.1, RCV001788367.1, RCV001788368.1, 40208707, 216317562, 3054740, 14826399, 482135, 47505362, 530117588, 6413708899, ss2281554108, ss3025545834, ss3648262819, ss3716529247, ss3726308096, ss3771260666, ss3807740511, ss3843773729, ss3958448398, ss4692740030, ss5267304540, ss5465104822, ss5552682772, ss5713668258, ss5807127925, ss5855190404, ss5882543677 | NC_000006.12:7562998:T:G | NC_000006.12:7562998:T:G | (self) |
| ss2991661, ss3185060, ss24337062, ss44764107, ss67222984, ss67617468, ss68195853, ss68964234, ss70701275, ss71267362, ss75632796, ss83967354, ss98363987, ss105978016, ss144161681, ss153847632, ss156496676, ss159356897, ss173103344 | NT_007592.15:7503231:T:G | NC_000006.12:7562998:T:G | (self) |
| ss17119452, ss22492847 | NT_034880.3:7503230:T:G | NC_000006.12:7562998:T:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
11
citations for rs2076295
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 23583980 | Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. | Fingerlin TE et al. | 2013 | Nature genetics |
| 24647608 | Transcriptome analysis reveals differential splicing events in IPF lung tissue. | Nance T et al. | 2014 | PloS one |
| 26669357 | Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis. | Mathai SK et al. | 2016 | American journal of respiratory and critical care medicine |
| 26792595 | Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. | Wu M et al. | 2016 | Arthritis research & therapy |
| 30207747 | A Novel Variant of Desmoplakin Is Potentially Associated with Silicosis Risk. | Wang W et al. | 2018 | DNA and cell biology |
| 31324189 | DSP variants may be associated with longitudinal change in quantitative emphysema. | Kim W et al. | 2019 | Respiratory research |
| 32551799 | Genome-Wide Association Study: Functional Variant rs2076295 Regulates Desmoplakin Expression in Airway Epithelial Cells. | Hao Y et al. | 2020 | American journal of respiratory and critical care medicine |
| 33076992 | Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study. | Kawasaki A et al. | 2020 | Arthritis research & therapy |
| 34490311 | Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome. | Guzmán-Vargas J et al. | 2021 | Frontiers in medicine |
| 34515605 | DSP rs2076295 variants influence nintedanib and pirfenidone outcomes in idiopathic pulmonary fibrosis: a pilot study. | Doubkova M et al. | 2021 | Therapeutic advances in respiratory disease |
| 35816432 | Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis. | Borie R et al. | 2022 | American journal of respiratory and critical care medicine |
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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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.