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.
rs1042602
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:89178528 (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>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.351920 (128826/366066, ALFA)A=0.246167 (65158/264690, TOPMED)A=0.254211 (63923/251456, GnomAD_exome) (+ 25 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TYR : Missense Variant
- Publications
- 41 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: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 382226 | C=0.651340 | A=0.348660 |
| European | Sub | 318304 | C=0.618943 | A=0.381057 |
| African | Sub | 17216 | C=0.92734 | A=0.07266 |
| African Others | Sub | 604 | C=0.995 | A=0.005 |
| African American | Sub | 16612 | C=0.92487 | A=0.07513 |
| Asian | Sub | 6986 | C=0.9990 | A=0.0010 |
| East Asian | Sub | 4986 | C=0.9990 | A=0.0010 |
| Other Asian | Sub | 2000 | C=0.9990 | A=0.0010 |
| Latin American 1 | Sub | 1596 | C=0.7180 | A=0.2820 |
| Latin American 2 | Sub | 8538 | C=0.7667 | A=0.2333 |
| South Asian | Sub | 5238 | C=0.8751 | A=0.1249 |
| Other | Sub | 24348 | C=0.68700 | A=0.31300 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 366066 | C=0.648080 | A=0.351920 |
| Allele Frequency Aggregator | European | Sub | 308424 | C=0.618431 | A=0.381569 |
| Allele Frequency Aggregator | Other | Sub | 22904 | C=0.68992 | A=0.31008 |
| Allele Frequency Aggregator | African | Sub | 12380 | C=0.92439 | A=0.07561 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 8538 | C=0.7667 | A=0.2333 |
| Allele Frequency Aggregator | Asian | Sub | 6986 | C=0.9990 | A=0.0010 |
| Allele Frequency Aggregator | South Asian | Sub | 5238 | C=0.8751 | A=0.1249 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1596 | C=0.7180 | A=0.2820 |
| TopMed | Global | Study-wide | 264690 | C=0.753833 | A=0.246167 |
| gnomAD - Exomes | Global | Study-wide | 251456 | C=0.745789 | A=0.254211 |
| gnomAD - Exomes | European | Sub | 135392 | C=0.660999 | A=0.339001 |
| gnomAD - Exomes | Asian | Sub | 49010 | C=0.93036 | A=0.06964 |
| gnomAD - Exomes | American | Sub | 34582 | C=0.79327 | A=0.20673 |
| gnomAD - Exomes | African | Sub | 16256 | C=0.94064 | A=0.05936 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=0.54980 | A=0.45020 |
| gnomAD - Exomes | Other | Sub | 6136 | C=0.6806 | A=0.3194 |
| gnomAD - Genomes | Global | Study-wide | 140046 | C=0.754067 | A=0.245933 |
| gnomAD - Genomes | European | Sub | 75832 | C=0.66136 | A=0.33864 |
| gnomAD - Genomes | African | Sub | 41978 | C=0.93113 | A=0.06887 |
| gnomAD - Genomes | American | Sub | 13636 | C=0.72521 | A=0.27479 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.5431 | A=0.4569 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.9987 | A=0.0013 |
| gnomAD - Genomes | Other | Sub | 2150 | C=0.7195 | A=0.2805 |
| ExAC | Global | Study-wide | 121396 | C=0.748180 | A=0.251820 |
| ExAC | Europe | Sub | 73342 | C=0.65036 | A=0.34964 |
| ExAC | Asian | Sub | 25166 | C=0.92855 | A=0.07145 |
| ExAC | American | Sub | 11574 | C=0.80819 | A=0.19181 |
| ExAC | African | Sub | 10406 | C=0.93802 | A=0.06198 |
| ExAC | Other | Sub | 908 | C=0.709 | A=0.291 |
| The PAGE Study | Global | Study-wide | 78702 | C=0.85519 | A=0.14481 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.92355 | A=0.07645 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.76475 | A=0.23525 |
| The PAGE Study | Asian | Sub | 8318 | C=0.9975 | A=0.0025 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.7339 | A=0.2661 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.8970 | A=0.1030 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.6234 | A=0.3766 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.7824 | A=0.2176 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.7951 | A=0.2049 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.7785 | A=0.2215 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.7579 | A=0.2421 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.882 | A=0.118 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.8716 | A=0.1284 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9871 | A=0.0129 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.6248 | A=0.3752 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9334 | A=0.0666 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9983 | A=0.0017 |
| 1000Genomes_30x | American | Sub | 980 | C=0.753 | A=0.247 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.8766 | A=0.1234 |
| 1000Genomes | African | Sub | 1322 | C=0.9879 | A=0.0121 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9990 | A=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | C=0.6282 | A=0.3718 |
| 1000Genomes | South Asian | Sub | 978 | C=0.937 | A=0.063 |
| 1000Genomes | American | Sub | 694 | C=0.762 | A=0.238 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7884 | A=0.2116 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.6251 | A=0.3749 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.6235 | A=0.3765 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9990 | A=0.0010 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.8287 | A=0.1713 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.987 | A=0.013 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.773 | A=0.227 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.626 | A=0.374 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.625 | A=0.375 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.983 | A=0.017 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.991 | A=0.009 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=1.00 | A=0.00 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.9989 | A=0.0011 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.7069 | A=0.2931 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.661 | A=0.339 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.750 | A=0.250 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.877 | A=0.123 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.556 | A=0.444 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.95 | A=0.05 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.56 | A=0.44 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.637 | A=0.363 |
| HapMap | Global | Study-wide | 978 | C=0.762 | A=0.238 |
| HapMap | American | Sub | 594 | C=0.759 | A=0.241 |
| HapMap | Europe | Sub | 176 | C=0.489 | A=0.511 |
| HapMap | African | Sub | 120 | C=1.000 | A=0.000 |
| HapMap | Asian | Sub | 88 | C=1.00 | A=0.00 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.995 | A=0.005 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.995 | A=0.005 |
| Chileans | Chilean | Study-wide | 626 | C=0.712 | A=0.288 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | C=0.997 | A=0.003 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.750 | A=0.250 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.541 | A=0.459 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.862 | A=0.138 |
| Qatari | Global | Study-wide | 216 | C=0.898 | A=0.102 |
| SGDP_PRJ | Global | Study-wide | 118 | C=0.441 | A=0.559 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 96 | C=0.69 | A=0.31 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.72 | A=0.28 |
| Siberian | Global | Study-wide | 18 | C=0.44 | A=0.56 |
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 11 | NC_000011.10:g.89178528C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.88911696C>A |
| TYR RefSeqGene | NG_008748.1:g.5657C>A |
Gene: TYR, tyrosinase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TYR transcript | NM_000372.5:c.575C>A | S [TCT] > Y [TAT] | Coding Sequence Variant |
| tyrosinase precursor | NP_000363.1:p.Ser192Tyr | S (Ser) > Y (Tyr) | Missense Variant |
| TYR transcript variant X1 | XM_011542970.3:c.575C>A | S [TCT] > Y [TAT] | Coding Sequence Variant |
| tyrosinase isoform X1 | XP_011541272.1:p.Ser192Tyr | S (Ser) > Y (Tyr) | 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: A (allele ID:
18817
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000003977.6 | Skin/hair/eye pigmentation, variation in, 3 | Association |
| RCV000055807.7 | Tyrosinase-negative oculocutaneous albinism | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000085955.5 | not provided | Benign |
| RCV000173114.4 | not specified | Benign |
| RCV000341159.5 | Oculocutaneous albinism | 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 | C= | A |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.89178528= | NC_000011.10:g.89178528C>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.88911696= | NC_000011.9:g.88911696C>A |
| TYR RefSeqGene | NG_008748.1:g.5657= | NG_008748.1:g.5657C>A |
| TYR transcript | NM_000372.5:c.575= | NM_000372.5:c.575C>A |
| TYR transcript | NM_000372.4:c.575= | NM_000372.4:c.575C>A |
| TYR transcript variant X1 | XM_011542970.3:c.575= | XM_011542970.3:c.575C>A |
| TYR transcript variant X1 | XM_011542970.2:c.575= | XM_011542970.2:c.575C>A |
| TYR transcript variant X1 | XM_011542970.1:c.575= | XM_011542970.1:c.575C>A |
| tyrosinase precursor | NP_000363.1:p.Ser192= | NP_000363.1:p.Ser192Tyr |
| tyrosinase isoform X1 | XP_011541272.1:p.Ser192= | XP_011541272.1:p.Ser192Tyr |
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#.
173 SubSNP,
28 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | LEE | ss1509962 | Oct 05, 2000 (86) |
| 2 | HGBASE | ss2421223 | Nov 14, 2000 (89) |
| 3 | PSU-ANTH | ss4387030 | Apr 11, 2002 (104) |
| 4 | LEE | ss4403974 | May 29, 2002 (106) |
| 5 | PERLEGEN | ss24427553 | Sep 20, 2004 (123) |
| 6 | SNP500CANCER | ss48297599 | Mar 13, 2006 (126) |
| 7 | APPLERA_GI | ss48417754 | Mar 13, 2006 (126) |
| 8 | ILLUMINA | ss65724634 | Oct 16, 2006 (127) |
| 9 | ILLUMINA | ss66600383 | Dec 01, 2006 (127) |
| 10 | ILLUMINA | ss66882688 | Dec 01, 2006 (127) |
| 11 | ILLUMINA | ss66976124 | Dec 01, 2006 (127) |
| 12 | PERLEGEN | ss69323975 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss70365474 | May 17, 2007 (127) |
| 14 | ILLUMINA | ss70478399 | May 27, 2008 (130) |
| 15 | ILLUMINA | ss71001701 | May 17, 2007 (127) |
| 16 | AFFY | ss74808468 | Aug 16, 2007 (128) |
| 17 | ILLUMINA | ss75449478 | Dec 06, 2007 (129) |
| 18 | AFFY | ss76462710 | Dec 06, 2007 (129) |
| 19 | KRIBB_YJKIM | ss83672214 | Dec 16, 2007 (130) |
| 20 | SALONSO | ss86351981 | Mar 23, 2008 (129) |
| 21 | BCMHGSC_JDW | ss88683920 | Mar 24, 2008 (129) |
| 22 | ILLUMINA | ss120037175 | Dec 01, 2009 (131) |
| 23 | ILLUMINA | ss121304561 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss132714928 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss152723576 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss159123133 | Dec 01, 2009 (131) |
| 27 | SEATTLESEQ | ss159724521 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss159892508 | Dec 01, 2009 (131) |
| 29 | COMPLETE_GENOMICS | ss168664954 | Jul 04, 2010 (132) |
| 30 | ILLUMINA | ss169381700 | Jul 04, 2010 (132) |
| 31 | ILLUMINA | ss170063740 | Jul 04, 2010 (132) |
| 32 | COMPLETE_GENOMICS | ss175224925 | Jul 04, 2010 (132) |
| 33 | BCM-HGSC-SUB | ss207517449 | Jul 04, 2010 (132) |
| 34 | 1000GENOMES | ss235654663 | Jul 15, 2010 (132) |
| 35 | OMICIA | ss244239055 | May 27, 2010 (132) |
| 36 | OMIM-CURATED-RECORDS | ss262857360 | Sep 17, 2010 (132) |
| 37 | NHLBI-ESP | ss342337916 | May 09, 2011 (134) |
| 38 | ILLUMINA | ss410886688 | Sep 17, 2011 (135) |
| 39 | ILLUMINA | ss479263930 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss479266863 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss479635884 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss484432638 | May 04, 2012 (137) |
| 43 | 1000GENOMES | ss491026881 | May 04, 2012 (137) |
| 44 | EXOME_CHIP | ss491457240 | May 04, 2012 (137) |
| 45 | CLINSEQ_SNP | ss491651940 | May 04, 2012 (137) |
| 46 | ILLUMINA | ss536604046 | Sep 08, 2015 (146) |
| 47 | RISN-LSDB | ss562053314 | Dec 21, 2012 (137) |
| 48 | SSMP | ss658238943 | Apr 25, 2013 (138) |
| 49 | ILLUMINA | ss778355596 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss780902527 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss782662785 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss783589716 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss783631681 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss825335205 | Apr 01, 2015 (144) |
| 55 | ILLUMINA | ss831913314 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss832635852 | Jul 13, 2019 (153) |
| 57 | ILLUMINA | ss833810336 | Sep 08, 2015 (146) |
| 58 | JMKIDD_LAB | ss974480703 | Aug 21, 2014 (142) |
| 59 | EVA-GONL | ss988793240 | Aug 21, 2014 (142) |
| 60 | JMKIDD_LAB | ss1067527099 | Aug 21, 2014 (142) |
| 61 | JMKIDD_LAB | ss1077918987 | Aug 21, 2014 (142) |
| 62 | 1000GENOMES | ss1342326273 | Aug 21, 2014 (142) |
| 63 | HAMMER_LAB | ss1397612445 | Sep 08, 2015 (146) |
| 64 | DDI | ss1426708318 | Apr 01, 2015 (144) |
| 65 | EVA_GENOME_DK | ss1575853951 | Apr 01, 2015 (144) |
| 66 | EVA_FINRISK | ss1584077362 | Apr 01, 2015 (144) |
| 67 | EVA_DECODE | ss1598456321 | Apr 01, 2015 (144) |
| 68 | EVA_UK10K_ALSPAC | ss1627129220 | Apr 01, 2015 (144) |
| 69 | EVA_UK10K_TWINSUK | ss1670123253 | Apr 01, 2015 (144) |
| 70 | EVA_EXAC | ss1690580410 | Apr 01, 2015 (144) |
| 71 | EVA_MGP | ss1711304821 | Apr 01, 2015 (144) |
| 72 | EVA_SVP | ss1713272611 | Apr 01, 2015 (144) |
| 73 | ILLUMINA | ss1752037639 | Sep 08, 2015 (146) |
| 74 | ILLUMINA | ss1752037640 | Sep 08, 2015 (146) |
| 75 | ILLUMINA | ss1917864807 | Feb 12, 2016 (147) |
| 76 | WEILL_CORNELL_DGM | ss1932152387 | Feb 12, 2016 (147) |
| 77 | ILLUMINA | ss1946318700 | Feb 12, 2016 (147) |
| 78 | ILLUMINA | ss1959373647 | Feb 12, 2016 (147) |
| 79 | JJLAB | ss2026819047 | Sep 14, 2016 (149) |
| 80 | ILLUMINA | ss2094791555 | Dec 20, 2016 (150) |
| 81 | ILLUMINA | ss2095025029 | Dec 20, 2016 (150) |
| 82 | USC_VALOUEV | ss2155130961 | Dec 20, 2016 (150) |
| 83 | HUMAN_LONGEVITY | ss2184417924 | Dec 20, 2016 (150) |
| 84 | ILLUMINA | ss2632864406 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2632864407 | Nov 08, 2017 (151) |
| 86 | ILLUMINA | ss2635028883 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2739304638 | Nov 08, 2017 (151) |
| 88 | GNOMAD | ss2748714388 | Nov 08, 2017 (151) |
| 89 | GNOMAD | ss2902648634 | Nov 08, 2017 (151) |
| 90 | AFFY | ss2984952675 | Nov 08, 2017 (151) |
| 91 | AFFY | ss2985595455 | Nov 08, 2017 (151) |
| 92 | SWEGEN | ss3008519797 | Nov 08, 2017 (151) |
| 93 | ILLUMINA | ss3021362210 | Nov 08, 2017 (151) |
| 94 | BIOINF_KMB_FNS_UNIBA | ss3027207028 | Nov 08, 2017 (151) |
| 95 | CSHL | ss3349717505 | Nov 08, 2017 (151) |
| 96 | ILLUMINA | ss3625606505 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3626713687 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3626713688 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3630879658 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3632993957 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3633693707 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3634468152 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3634468153 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3635385117 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3636151761 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3637136012 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3637921780 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3638974564 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3639488365 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3640175491 | Oct 12, 2018 (152) |
| 111 | ILLUMINA | ss3640175492 | Oct 12, 2018 (152) |
| 112 | ILLUMINA | ss3642918919 | Oct 12, 2018 (152) |
| 113 | ILLUMINA | ss3644571544 | Oct 12, 2018 (152) |
| 114 | OMUKHERJEE_ADBS | ss3646431081 | Oct 12, 2018 (152) |
| 115 | ILLUMINA | ss3651728699 | Oct 12, 2018 (152) |
| 116 | ILLUMINA | ss3651728700 | Oct 12, 2018 (152) |
| 117 | ILLUMINA | ss3653725013 | Oct 12, 2018 (152) |
| 118 | EGCUT_WGS | ss3675841281 | Jul 13, 2019 (153) |
| 119 | EVA_DECODE | ss3692295635 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3725263747 | Jul 13, 2019 (153) |
| 121 | ACPOP | ss3738399839 | Jul 13, 2019 (153) |
| 122 | ILLUMINA | ss3744385761 | Jul 13, 2019 (153) |
| 123 | ILLUMINA | ss3744768973 | Jul 13, 2019 (153) |
| 124 | ILLUMINA | ss3744768974 | Jul 13, 2019 (153) |
| 125 | EVA | ss3749616203 | Jul 13, 2019 (153) |
| 126 | PAGE_CC | ss3771642627 | Jul 13, 2019 (153) |
| 127 | ILLUMINA | ss3772268771 | Jul 13, 2019 (153) |
| 128 | ILLUMINA | ss3772268772 | Jul 13, 2019 (153) |
| 129 | PACBIO | ss3787020793 | Jul 13, 2019 (153) |
| 130 | PACBIO | ss3792151099 | Jul 13, 2019 (153) |
| 131 | PACBIO | ss3797033476 | Jul 13, 2019 (153) |
| 132 | KHV_HUMAN_GENOMES | ss3814948066 | Jul 13, 2019 (153) |
| 133 | EVA | ss3824660808 | Apr 26, 2020 (154) |
| 134 | EVA | ss3825806850 | Apr 26, 2020 (154) |
| 135 | EVA | ss3832756255 | Apr 26, 2020 (154) |
| 136 | EVA | ss3839936420 | Apr 26, 2020 (154) |
| 137 | EVA | ss3845417168 | Apr 26, 2020 (154) |
| 138 | HGDP | ss3847426030 | Apr 26, 2020 (154) |
| 139 | SGDP_PRJ | ss3876800889 | Apr 26, 2020 (154) |
| 140 | KRGDB | ss3925229613 | Apr 26, 2020 (154) |
| 141 | KOGIC | ss3970446966 | Apr 26, 2020 (154) |
| 142 | FSA-LAB | ss3984010756 | Apr 26, 2021 (155) |
| 143 | EVA | ss3984654686 | Apr 26, 2021 (155) |
| 144 | EVA | ss3985547760 | Apr 26, 2021 (155) |
| 145 | EVA | ss3986540905 | Apr 26, 2021 (155) |
| 146 | EVA | ss4017550886 | Apr 26, 2021 (155) |
| 147 | TOPMED | ss4894400860 | Apr 26, 2021 (155) |
| 148 | EVA | ss5236898531 | Apr 26, 2021 (155) |
| 149 | EVA | ss5237216180 | Apr 26, 2021 (155) |
| 150 | EVA | ss5237498562 | Apr 26, 2021 (155) |
| 151 | EVA | ss5237658252 | Oct 16, 2022 (156) |
| 152 | 1000G_HIGH_COVERAGE | ss5288344170 | Oct 16, 2022 (156) |
| 153 | TRAN_CS_UWATERLOO | ss5314432882 | Oct 16, 2022 (156) |
| 154 | EVA | ss5315563602 | Oct 16, 2022 (156) |
| 155 | EVA | ss5401231970 | Oct 16, 2022 (156) |
| 156 | HUGCELL_USP | ss5483402843 | Oct 16, 2022 (156) |
| 157 | 1000G_HIGH_COVERAGE | ss5584528833 | Oct 16, 2022 (156) |
| 158 | EVA | ss5624024412 | Oct 16, 2022 (156) |
| 159 | SANFORD_IMAGENETICS | ss5624281323 | Oct 16, 2022 (156) |
| 160 | SANFORD_IMAGENETICS | ss5651746816 | Oct 16, 2022 (156) |
| 161 | EVA | ss5799403759 | Oct 16, 2022 (156) |
| 162 | EVA | ss5799444883 | Oct 16, 2022 (156) |
| 163 | EVA | ss5799849788 | Oct 16, 2022 (156) |
| 164 | EVA | ss5800063784 | Oct 16, 2022 (156) |
| 165 | EVA | ss5800170885 | Oct 16, 2022 (156) |
| 166 | EVA | ss5837011899 | Oct 16, 2022 (156) |
| 167 | EVA | ss5847395161 | Oct 16, 2022 (156) |
| 168 | EVA | ss5847642922 | Oct 16, 2022 (156) |
| 169 | EVA | ss5848334219 | Oct 16, 2022 (156) |
| 170 | EVA | ss5921021257 | Oct 16, 2022 (156) |
| 171 | EVA | ss5943068888 | Oct 16, 2022 (156) |
| 172 | EVA | ss5979366796 | Oct 16, 2022 (156) |
| 173 | EVA | ss5980694353 | Oct 16, 2022 (156) |
| 174 | 1000Genomes | NC_000011.9 - 88911696 | Oct 12, 2018 (152) |
| 175 | 1000Genomes_30x | NC_000011.10 - 89178528 | Oct 16, 2022 (156) |
| 176 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 88911696 | Oct 12, 2018 (152) |
| 177 | Chileans | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 178 | Genome-wide autozygosity in Daghestan | NC_000011.8 - 88551344 | Apr 26, 2020 (154) |
| 179 | Genetic variation in the Estonian population | NC_000011.9 - 88911696 | Oct 12, 2018 (152) |
| 180 | ExAC | NC_000011.9 - 88911696 | Oct 12, 2018 (152) |
| 181 | FINRISK | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 182 | The Danish reference pan genome | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 183 | gnomAD - Genomes | NC_000011.10 - 89178528 | Apr 26, 2021 (155) |
| 184 | gnomAD - Exomes | NC_000011.9 - 88911696 | Jul 13, 2019 (153) |
| 185 | Genome of the Netherlands Release 5 | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 186 | HGDP-CEPH-db Supplement 1 | NC_000011.8 - 88551344 | Apr 26, 2020 (154) |
| 187 | HapMap | NC_000011.10 - 89178528 | Apr 26, 2020 (154) |
| 188 | KOREAN population from KRGDB | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 189 | Korean Genome Project | NC_000011.10 - 89178528 | Apr 26, 2020 (154) |
| 190 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 191 | Northern Sweden | NC_000011.9 - 88911696 | Jul 13, 2019 (153) |
| 192 | The PAGE Study | NC_000011.10 - 89178528 | Jul 13, 2019 (153) |
| 193 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 88911696 | Apr 26, 2021 (155) |
| 194 | CNV burdens in cranial meningiomas | NC_000011.9 - 88911696 | Apr 26, 2021 (155) |
| 195 | Qatari | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 196 | SGDP_PRJ | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 197 | Siberian | NC_000011.9 - 88911696 | Apr 26, 2020 (154) |
| 198 | TopMed | NC_000011.10 - 89178528 | Apr 26, 2021 (155) |
| 199 | UK 10K study - Twins | NC_000011.9 - 88911696 | Oct 12, 2018 (152) |
| 200 | A Vietnamese Genetic Variation Database | NC_000011.9 - 88911696 | Jul 13, 2019 (153) |
| 201 | ALFA | NC_000011.10 - 89178528 | Apr 26, 2021 (155) |
| 202 | ClinVar | RCV000003977.6 | Oct 16, 2022 (156) |
| 203 | ClinVar | RCV000055807.7 | Oct 16, 2022 (156) |
| 204 | ClinVar | RCV000085955.5 | Oct 16, 2022 (156) |
| 205 | ClinVar | RCV000173114.4 | Oct 16, 2022 (156) |
| 206 | ClinVar | RCV000341159.5 | Oct 16, 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) |
|---|---|
| rs3182060 | Jul 03, 2002 (106) |
| rs17253016 | Oct 08, 2004 (123) |
| rs52836989 | Sep 21, 2007 (128) |
| rs61569485 | Feb 27, 2009 (130) |
| rs386512913 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 83598, 103922, ss88683920, ss168664954, ss175224925, ss207517449, ss479263930, ss491651940, ss825335205, ss1397612445, ss1598456321, ss1713272611, ss2635028883, ss3638974564, ss3639488365, ss3642918919, ss3847426030 | NC_000011.8:88551343:C:A | NC_000011.10:89178527:C:A | (self) |
| 54884639, 30465804, 81037, 21579529, 851687, 73823, 2667372, 8521565, 13594067, 32407007, 420581, 11684704, 773687, 204168, 14194317, 28817869, 7647315, 30465804, 6756855, ss235654663, ss342337916, ss479266863, ss479635884, ss484432638, ss491026881, ss491457240, ss536604046, ss658238943, ss778355596, ss780902527, ss782662785, ss783589716, ss783631681, ss831913314, ss832635852, ss833810336, ss974480703, ss988793240, ss1067527099, ss1077918987, ss1342326273, ss1426708318, ss1575853951, ss1584077362, ss1627129220, ss1670123253, ss1690580410, ss1711304821, ss1752037639, ss1752037640, ss1917864807, ss1932152387, ss1946318700, ss1959373647, ss2026819047, ss2094791555, ss2095025029, ss2155130961, ss2632864406, ss2632864407, ss2739304638, ss2748714388, ss2902648634, ss2984952675, ss2985595455, ss3008519797, ss3021362210, ss3349717505, ss3625606505, ss3626713687, ss3626713688, ss3630879658, ss3632993957, ss3633693707, ss3634468152, ss3634468153, ss3635385117, ss3636151761, ss3637136012, ss3637921780, ss3640175491, ss3640175492, ss3644571544, ss3646431081, ss3651728699, ss3651728700, ss3653725013, ss3675841281, ss3738399839, ss3744385761, ss3744768973, ss3744768974, ss3749616203, ss3772268771, ss3772268772, ss3787020793, ss3792151099, ss3797033476, ss3824660808, ss3825806850, ss3832756255, ss3839936420, ss3876800889, ss3925229613, ss3984010756, ss3984654686, ss3985547760, ss3986540905, ss4017550886, ss5237498562, ss5315563602, ss5401231970, ss5624024412, ss5624281323, ss5651746816, ss5799403759, ss5799444883, ss5799849788, ss5800063784, ss5800170885, ss5837011899, ss5847395161, ss5847642922, ss5848334219, ss5943068888, ss5979366796, ss5980694353 | NC_000011.9:88911695:C:A | NC_000011.10:89178527:C:A | (self) |
| RCV000003977.6, RCV000055807.7, RCV000085955.5, RCV000173114.4, RCV000341159.5, 72054768, 387355356, 661309, 26824967, 864096, 109946516, 12496523690, ss244239055, ss262857360, ss562053314, ss2184417924, ss3027207028, ss3692295635, ss3725263747, ss3771642627, ss3814948066, ss3845417168, ss3970446966, ss4894400860, ss5236898531, ss5237216180, ss5237658252, ss5288344170, ss5314432882, ss5483402843, ss5584528833, ss5921021257 | NC_000011.10:89178527:C:A | NC_000011.10:89178527:C:A | (self) |
| ss1509962, ss2421223, ss4387030, ss4403974, ss24427553, ss48297599, ss48417754, ss65724634, ss66600383, ss66882688, ss66976124, ss69323975, ss70365474, ss70478399, ss71001701, ss74808468, ss75449478, ss76462710, ss83672214, ss86351981, ss120037175, ss121304561, ss132714928, ss152723576, ss159123133, ss159724521, ss159892508, ss169381700, ss170063740, ss410886688 | NT_167190.1:34217490:C:A | NC_000011.10:89178527:C:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
41
citations for rs1042602
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15660291 | Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. | Reiner AP et al. | 2005 | American journal of human genetics |
| 16595073 | Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations. | Savas S et al. | 2006 | Human genomics |
| 17952075 | Genetic determinants of hair, eye and skin pigmentation in Europeans. | Sulem P et al. | 2007 | Nature genetics |
| 17999355 | A genomewide association study of skin pigmentation in a South Asian population. | Stokowski RP et al. | 2007 | American journal of human genetics |
| 18282109 | Adaptations to climate in candidate genes for common metabolic disorders. | Hancock AM et al. | 2008 | PLoS genetics |
| 18654799 | Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease. | Keene KL et al. | 2008 | Human genetics |
| 19384953 | Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. | Nan H et al. | 2009 | International journal of cancer |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19578364 | Genome-wide association study identifies three loci associated with melanoma risk. | Bishop DT et al. | 2009 | Nature genetics |
| 19586928 | Admixture mapping of ankle-arm index: identification of a candidate locus associated with peripheral arterial disease. | Scherer ML et al. | 2010 | Journal of medical genetics |
| 19710684 | Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. | Duffy DL et al. | 2010 | The Journal of investigative dermatology |
| 19863770 | Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. | Udayakumar D et al. | 2009 | Genome medicine |
| 20021678 | Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study. | Mez JB et al. | 2009 | BMC research notes |
| 20301345 | Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. | Lewis RA et al. | 1993 | GeneReviews(®) |
| 20546537 | Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. | Gerstenblith MR et al. | 2010 | Pigment cell & melanoma research |
| 20585627 | Web-based, participant-driven studies yield novel genetic associations for common traits. | Eriksson N et al. | 2010 | PLoS genetics |
| 21197618 | Model-based prediction of human hair color using DNA variants. | Branicki W et al. | 2011 | Human genetics |
| 21273692 | Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City. | Lee YL et al. | 2010 | Journal of genetics |
| 21592109 | Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX. | Beuten J et al. | 2011 | Annals of human genetics |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 22734612 | Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. | Jaworek TJ et al. | 2012 | Orphanet journal of rare diseases |
| 23110848 | Human pigmentation genes under environmental selection. | Sturm RA et al. | 2012 | Genome biology |
| 23118974 | Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. | Candille SI et al. | 2012 | PloS one |
| 23927501 | Why it is hard to find genes associated with social science traits: theoretical and empirical considerations. | Chabris CF et al. | 2013 | American journal of public health |
| 24681889 | The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. | Pośpiech E et al. | 2014 | Forensic science international. Genetics |
| 24809478 | Implications of the admixture process in skin color molecular assessment. | Cerqueira CC et al. | 2014 | PloS one |
| 24924479 | Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children. | Bonilla C et al. | 2014 | BMC public health |
| 25741868 | Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S et al. | 2015 | Genetics in medicine |
| 25887915 | Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan. | Ilyas M et al. | 2015 | BMC genomics |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26918427 | Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India. | Jonnalagadda M et al. | 2016 | American journal of human biology |
| 26921301 | Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes. | Tiosano D et al. | 2016 | G3 (Bethesda, Md.) |
| 26998216 | Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin. | Hernando B et al. | 2016 | Biology of sex differences |
| 29518100 | Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. | Nair-Shalliker V et al. | 2018 | PloS one |
| 31315583 | Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. | Lona-Durazo F et al. | 2019 | BMC genetics |
| 31872004 | Data on a genome-wide association study of type 2 diabetes in a Maya population. | Totomoch-Serra A et al. | 2020 | Data in brief |
| 33979322 | Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. | Currant H et al. | 2021 | PLoS genetics |
| 34068188 | Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch. | Shan MA et al. | 2021 | Genes |
| 34238381 | Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population. | Wang Y et al. | 2021 | Hereditas |
| 35176104 | Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel. | Rauf S et al. | 2022 | PloS one |
| 35933957 | Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing. | Liu J et al. | 2022 | Stem cell research |
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.