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.
rs1126809
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:89284793 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.172492 (45657/264690, TOPMED)A=0.176444 (44164/250300, GnomAD_exome)A=0.180942 (25261/139608, GnomAD) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TYR : Missense Variant
- Publications
- 47 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 | 86070 | G=0.74066 | A=0.25934 |
| European | Sub | 71088 | G=0.72362 | A=0.27638 |
| African | Sub | 3688 | G=0.9287 | A=0.0713 |
| African Others | Sub | 124 | G=0.976 | A=0.024 |
| African American | Sub | 3564 | G=0.9270 | A=0.0730 |
| Asian | Sub | 194 | G=0.995 | A=0.005 |
| East Asian | Sub | 112 | G=1.000 | A=0.000 |
| Other Asian | Sub | 82 | G=0.99 | A=0.01 |
| Latin American 1 | Sub | 500 | G=0.864 | A=0.136 |
| Latin American 2 | Sub | 648 | G=0.872 | A=0.128 |
| South Asian | Sub | 98 | G=0.96 | A=0.04 |
| Other | Sub | 9854 | G=0.7712 | A=0.2288 |
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 | G=0.827508 | A=0.172492 |
| gnomAD - Exomes | Global | Study-wide | 250300 | G=0.823556 | A=0.176444 |
| gnomAD - Exomes | European | Sub | 134582 | G=0.744706 | A=0.255294 |
| gnomAD - Exomes | Asian | Sub | 48988 | G=0.96093 | A=0.03907 |
| gnomAD - Exomes | American | Sub | 34404 | G=0.89763 | A=0.10237 |
| gnomAD - Exomes | African | Sub | 16174 | G=0.95616 | A=0.04384 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10060 | G=0.76173 | A=0.23827 |
| gnomAD - Exomes | Other | Sub | 6092 | G=0.7925 | A=0.2075 |
| gnomAD - Genomes | Global | Study-wide | 139608 | G=0.819058 | A=0.180942 |
| gnomAD - Genomes | European | Sub | 75632 | G=0.73954 | A=0.26046 |
| gnomAD - Genomes | African | Sub | 41882 | G=0.94807 | A=0.05193 |
| gnomAD - Genomes | American | Sub | 13558 | G=0.83692 | A=0.16308 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3310 | G=0.7631 | A=0.2369 |
| gnomAD - Genomes | East Asian | Sub | 3082 | G=0.9990 | A=0.0010 |
| gnomAD - Genomes | Other | Sub | 2144 | G=0.8186 | A=0.1814 |
| ExAC | Global | Study-wide | 120544 | G=0.823027 | A=0.176973 |
| ExAC | Europe | Sub | 73000 | G=0.74425 | A=0.25575 |
| ExAC | Asian | Sub | 25118 | G=0.96007 | A=0.03993 |
| ExAC | American | Sub | 11342 | G=0.90839 | A=0.09161 |
| ExAC | African | Sub | 10180 | G=0.95373 | A=0.04627 |
| ExAC | Other | Sub | 904 | G=0.834 | A=0.166 |
| Allele Frequency Aggregator | Total | Global | 85982 | G=0.74074 | A=0.25926 |
| Allele Frequency Aggregator | European | Sub | 71016 | G=0.72368 | A=0.27632 |
| Allele Frequency Aggregator | Other | Sub | 9838 | G=0.7713 | A=0.2287 |
| Allele Frequency Aggregator | African | Sub | 3688 | G=0.9287 | A=0.0713 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 648 | G=0.872 | A=0.128 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 500 | G=0.864 | A=0.136 |
| Allele Frequency Aggregator | Asian | Sub | 194 | G=0.995 | A=0.005 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=0.96 | A=0.04 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99996 | A=0.00004 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.9180 | A=0.0820 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.9916 | A=0.0084 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.7457 | A=0.2543 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9451 | A=0.0549 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9991 | A=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | G=0.877 | A=0.123 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9187 | A=0.0813 |
| 1000Genomes | African | Sub | 1322 | G=0.9909 | A=0.0091 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9990 | A=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | G=0.7475 | A=0.2525 |
| 1000Genomes | South Asian | Sub | 978 | G=0.946 | A=0.054 |
| 1000Genomes | American | Sub | 694 | G=0.875 | A=0.125 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.7084 | A=0.2916 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.7147 | A=0.2853 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9993 | A=0.0007 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | G=0.7787 | A=0.2213 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | G=0.730 | A=0.270 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.757 | A=0.243 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.877 | A=0.123 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.759 | A=0.241 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=1.00 | A=0.00 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.83 | A=0.17 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.751 | A=0.249 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.992 | A=0.008 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.992 | A=0.008 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.765 | A=0.235 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.792 | A=0.208 |
| HapMap | Global | Study-wide | 326 | G=0.920 | A=0.080 |
| HapMap | American | Sub | 120 | G=0.783 | A=0.217 |
| HapMap | African | Sub | 118 | G=1.000 | A=0.000 |
| HapMap | Asian | Sub | 88 | G=1.00 | A=0.00 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.822 | A=0.178 |
| Qatari | Global | Study-wide | 216 | G=0.926 | A=0.074 |
| SGDP_PRJ | Global | Study-wide | 88 | G=0.48 | A=0.52 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 64 | G=0.66 | A=0.34 |
| Siberian | Global | Study-wide | 10 | G=0.5 | A=0.5 |
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.89284793G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.89017961G>A |
| TYR RefSeqGene | NG_008748.1:g.111922G>A |
Gene: TYR, tyrosinase
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TYR transcript | NM_000372.5:c.1205G>A | R [CGA] > Q [CAA] | Coding Sequence Variant |
| tyrosinase precursor | NP_000363.1:p.Arg402Gln | R (Arg) > Q (Gln) | Missense Variant |
| TYR transcript variant X1 | XM_011542970.3:c.1205G>A | R [CGA] > Q [CAA] | Coding Sequence Variant |
| tyrosinase isoform X1 | XP_011541272.1:p.Arg402Gln | R (Arg) > Q (Gln) | 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:
18818
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000003978.12 | Oculocutaneous albinism type 1B | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000003979.7 | Temperature-sensitive oculocutaneous albinism type 1 | Pathogenic |
| RCV000003980.7 | Melanoma, cutaneous malignant, susceptibility to, 8 | Risk-Factor |
| RCV000003981.7 | Skin/hair/eye pigmentation, variation in, 3 | Association |
| RCV000003982.7 | Skin/hair/eye pigmentation 3, blue/green eyes | Association |
| RCV000085910.12 | not provided | Conflicting-Interpretations-Of-Pathogenicity,Other |
| RCV000254054.4 | not specified | Benign |
| RCV000379382.4 | Oculocutaneous albinism | Likely-Benign |
| RCV000500466.12 | Tyrosinase-negative oculocutaneous albinism | Conflicting-Interpretations-Of-Pathogenicity |
| RCV000626673.2 | Abnormality of metabolism/homeostasis,Albinism,Choroidal neovascularization,Elevated hepatic transaminase,Foveal hypoplasia,Slow decrease in visual acuity | Likely-Pathogenic |
| RCV000721172.2 | Autosomal recessive ocular albinism | Other |
| RCV001269379.2 | Malignant tumor of breast | Likely-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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.89284793= | NC_000011.10:g.89284793G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.89017961= | NC_000011.9:g.89017961G>A |
| TYR RefSeqGene | NG_008748.1:g.111922= | NG_008748.1:g.111922G>A |
| TYR transcript | NM_000372.5:c.1205= | NM_000372.5:c.1205G>A |
| TYR transcript | NM_000372.4:c.1205= | NM_000372.4:c.1205G>A |
| TYR transcript variant X1 | XM_011542970.3:c.1205= | XM_011542970.3:c.1205G>A |
| TYR transcript variant X1 | XM_011542970.2:c.1205= | XM_011542970.2:c.1205G>A |
| TYR transcript variant X1 | XM_011542970.1:c.1205= | XM_011542970.1:c.1205G>A |
| tyrosinase precursor | NP_000363.1:p.Arg402= | NP_000363.1:p.Arg402Gln |
| tyrosinase isoform X1 | XP_011541272.1:p.Arg402= | XP_011541272.1:p.Arg402Gln |
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#.
94 SubSNP,
22 Frequency,
12 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | PERLEGEN | ss24409602 | Sep 20, 2004 (126) |
| 2 | ABI | ss39943701 | Mar 11, 2006 (126) |
| 3 | SNP500CANCER | ss48297598 | Mar 11, 2006 (126) |
| 4 | HUMANGENOME_JCVI | ss97497134 | Feb 05, 2009 (130) |
| 5 | ENSEMBL | ss132039354 | Dec 01, 2009 (131) |
| 6 | SEATTLESEQ | ss159724522 | Dec 01, 2009 (131) |
| 7 | 1000GENOMES | ss235654937 | Jul 15, 2010 (132) |
| 8 | OMICIA | ss244239056 | May 27, 2010 (132) |
| 9 | BL | ss255326073 | May 09, 2011 (134) |
| 10 | OMIM-CURATED-RECORDS | ss262857361 | Sep 17, 2010 (132) |
| 11 | GMI | ss286425988 | Apr 25, 2013 (138) |
| 12 | NHLBI-ESP | ss342337937 | May 09, 2011 (134) |
| 13 | 1000GENOMES | ss491026892 | May 04, 2012 (137) |
| 14 | EXOME_CHIP | ss491457252 | May 04, 2012 (137) |
| 15 | CLINSEQ_SNP | ss491651950 | May 04, 2012 (137) |
| 16 | RISN-LSDB | ss562055715 | Dec 21, 2012 (137) |
| 17 | SSMP | ss658239502 | Apr 25, 2013 (138) |
| 18 | ILLUMINA | ss780902535 | Sep 08, 2015 (146) |
| 19 | ILLUMINA | ss783589725 | Sep 08, 2015 (146) |
| 20 | EVA-GONL | ss988794005 | Aug 21, 2014 (142) |
| 21 | JMKIDD_LAB | ss1067527102 | Aug 21, 2014 (142) |
| 22 | JMKIDD_LAB | ss1077919510 | Aug 21, 2014 (142) |
| 23 | 1000GENOMES | ss1342329583 | Aug 21, 2014 (142) |
| 24 | HAMMER_LAB | ss1397612469 | Sep 08, 2015 (146) |
| 25 | DDI | ss1426708619 | Apr 01, 2015 (144) |
| 26 | EVA_FINRISK | ss1584077365 | Apr 01, 2015 (144) |
| 27 | EVA_DECODE | ss1598457132 | Apr 01, 2015 (144) |
| 28 | EVA_UK10K_ALSPAC | ss1627130758 | Apr 01, 2015 (144) |
| 29 | EVA_UK10K_TWINSUK | ss1670124791 | Apr 01, 2015 (144) |
| 30 | EVA_EXAC | ss1690580647 | Apr 01, 2015 (144) |
| 31 | EVA_MGP | ss1711304832 | Apr 01, 2015 (144) |
| 32 | ILLUMINA | ss1752037676 | Sep 08, 2015 (146) |
| 33 | ILLUMINA | ss1917864817 | Feb 12, 2016 (147) |
| 34 | WEILL_CORNELL_DGM | ss1932153251 | Feb 12, 2016 (147) |
| 35 | ILLUMINA | ss1946318729 | Feb 12, 2016 (147) |
| 36 | ILLUMINA | ss1959373726 | Feb 12, 2016 (147) |
| 37 | JJLAB | ss2026819437 | Sep 14, 2016 (149) |
| 38 | USC_VALOUEV | ss2155131302 | Dec 20, 2016 (150) |
| 39 | GNOMAD | ss2739304950 | Nov 08, 2017 (151) |
| 40 | GNOMAD | ss2748714489 | Nov 08, 2017 (151) |
| 41 | GNOMAD | ss2902657370 | Nov 08, 2017 (151) |
| 42 | AFFY | ss2984952704 | Nov 08, 2017 (151) |
| 43 | AFFY | ss2985595468 | Nov 08, 2017 (151) |
| 44 | SWEGEN | ss3008520893 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss3021362316 | Nov 08, 2017 (151) |
| 46 | CSHL | ss3349717827 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss3626713834 | Oct 12, 2018 (152) |
| 48 | ILLUMINA | ss3634468188 | Oct 12, 2018 (152) |
| 49 | ILLUMINA | ss3640175527 | Oct 12, 2018 (152) |
| 50 | ILLUMINA | ss3644571574 | Oct 12, 2018 (152) |
| 51 | OMUKHERJEE_ADBS | ss3646431085 | Oct 12, 2018 (152) |
| 52 | URBANLAB | ss3649665519 | Oct 12, 2018 (152) |
| 53 | ILLUMINA | ss3651728807 | Oct 12, 2018 (152) |
| 54 | ILLUMINA | ss3653725047 | Oct 12, 2018 (152) |
| 55 | EVA_DECODE | ss3692296988 | Jul 13, 2019 (153) |
| 56 | ACPOP | ss3738400409 | Jul 13, 2019 (153) |
| 57 | ILLUMINA | ss3744385771 | Jul 13, 2019 (153) |
| 58 | ILLUMINA | ss3744769008 | Jul 13, 2019 (153) |
| 59 | EVA | ss3749617169 | Jul 13, 2019 (153) |
| 60 | ILLUMINA | ss3772268806 | Jul 13, 2019 (153) |
| 61 | KHV_HUMAN_GENOMES | ss3814948979 | Jul 13, 2019 (153) |
| 62 | EVA | ss3824660861 | Apr 26, 2020 (154) |
| 63 | EVA | ss3825806860 | Apr 26, 2020 (154) |
| 64 | EVA | ss3832756621 | Apr 26, 2020 (154) |
| 65 | EVA | ss3839936534 | Apr 26, 2020 (154) |
| 66 | EVA | ss3845417286 | Apr 26, 2020 (154) |
| 67 | SGDP_PRJ | ss3876802526 | Apr 26, 2020 (154) |
| 68 | KRGDB | ss3925231316 | Apr 26, 2020 (154) |
| 69 | FSA-LAB | ss3984010763 | Apr 26, 2021 (155) |
| 70 | EVA | ss3984654698 | Apr 26, 2021 (155) |
| 71 | EVA | ss3985547796 | Apr 26, 2021 (155) |
| 72 | EVA | ss3986540921 | Apr 26, 2021 (155) |
| 73 | TOPMED | ss4894428885 | Apr 26, 2021 (155) |
| 74 | EVA | ss5236898534 | Apr 26, 2021 (155) |
| 75 | EVA | ss5237216183 | Apr 26, 2021 (155) |
| 76 | EVA | ss5237498577 | Apr 26, 2021 (155) |
| 77 | EVA | ss5237658253 | Oct 16, 2022 (156) |
| 78 | 1000G_HIGH_COVERAGE | ss5288346877 | Oct 16, 2022 (156) |
| 79 | EVA | ss5315563653 | Oct 16, 2022 (156) |
| 80 | EVA | ss5401236915 | Oct 16, 2022 (156) |
| 81 | HUGCELL_USP | ss5483405007 | Oct 16, 2022 (156) |
| 82 | 1000G_HIGH_COVERAGE | ss5584533369 | Oct 16, 2022 (156) |
| 83 | EVA | ss5623954773 | Oct 16, 2022 (156) |
| 84 | EVA | ss5624024416 | Oct 16, 2022 (156) |
| 85 | SANFORD_IMAGENETICS | ss5651748407 | Oct 16, 2022 (156) |
| 86 | TOMMO_GENOMICS | ss5751430138 | Oct 16, 2022 (156) |
| 87 | EVA | ss5799444886 | Oct 16, 2022 (156) |
| 88 | EVA | ss5837012872 | Oct 16, 2022 (156) |
| 89 | EVA | ss5847395170 | Oct 16, 2022 (156) |
| 90 | EVA | ss5847642961 | Oct 16, 2022 (156) |
| 91 | EVA | ss5848334229 | Oct 16, 2022 (156) |
| 92 | EVA | ss5921024389 | Oct 16, 2022 (156) |
| 93 | EVA | ss5943070593 | Oct 16, 2022 (156) |
| 94 | EVA | ss5979366829 | Oct 16, 2022 (156) |
| 95 | 1000Genomes | NC_000011.9 - 89017961 | Oct 12, 2018 (152) |
| 96 | 1000Genomes_30x | NC_000011.10 - 89284793 | Oct 16, 2022 (156) |
| 97 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 89017961 | Oct 12, 2018 (152) |
| 98 | Genome-wide autozygosity in Daghestan | NC_000011.8 - 88657609 | Apr 26, 2020 (154) |
| 99 | ExAC | NC_000011.9 - 89017961 | Oct 12, 2018 (152) |
| 100 | FINRISK | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 101 | gnomAD - Genomes | NC_000011.10 - 89284793 | Apr 26, 2021 (155) |
| 102 | gnomAD - Exomes | NC_000011.9 - 89017961 | Jul 13, 2019 (153) |
| 103 | Genome of the Netherlands Release 5 | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 104 | HapMap | NC_000011.10 - 89284793 | Apr 26, 2020 (154) |
| 105 | KOREAN population from KRGDB | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 106 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 107 | Northern Sweden | NC_000011.9 - 89017961 | Jul 13, 2019 (153) |
| 108 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 89017961 | Apr 26, 2021 (155) |
| 109 | CNV burdens in cranial meningiomas | NC_000011.9 - 89017961 | Apr 26, 2021 (155) |
| 110 | Qatari | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 111 | SGDP_PRJ | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 112 | Siberian | NC_000011.9 - 89017961 | Apr 26, 2020 (154) |
| 113 | 14KJPN | NC_000011.10 - 89284793 | Oct 16, 2022 (156) |
| 114 | TopMed | NC_000011.10 - 89284793 | Apr 26, 2021 (155) |
| 115 | UK 10K study - Twins | NC_000011.9 - 89017961 | Oct 12, 2018 (152) |
| 116 | ALFA | NC_000011.10 - 89284793 | Apr 26, 2021 (155) |
| 117 | ClinVar | RCV000003978.12 | Oct 16, 2022 (156) |
| 118 | ClinVar | RCV000003979.7 | Oct 16, 2022 (156) |
| 119 | ClinVar | RCV000003980.7 | Oct 16, 2022 (156) |
| 120 | ClinVar | RCV000003981.7 | Oct 16, 2022 (156) |
| 121 | ClinVar | RCV000003982.7 | Oct 16, 2022 (156) |
| 122 | ClinVar | RCV000085910.12 | Oct 16, 2022 (156) |
| 123 | ClinVar | RCV000254054.4 | Oct 16, 2022 (156) |
| 124 | ClinVar | RCV000379382.4 | Oct 16, 2022 (156) |
| 125 | ClinVar | RCV000500466.12 | Oct 16, 2022 (156) |
| 126 | ClinVar | RCV000626673.2 | Oct 16, 2022 (156) |
| 127 | ClinVar | RCV000721172.2 | Oct 16, 2022 (156) |
| 128 | ClinVar | RCV001269379.2 | 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) |
|---|---|
| rs1800422 | Mar 11, 2006 (126) |
| rs3182064 | Oct 09, 2002 (108) |
| rs17192517 | Oct 08, 2004 (123) |
| rs17415673 | May 11, 2012 (137) |
| rs62645918 | Nov 20, 2012 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 83622, ss255326073, ss286425988, ss491651950, ss1397612469, ss1598457132 | NC_000011.8:88657608:G:A | NC_000011.10:89284792:G:A | (self) |
| 54888054, 30467451, 851954, 73826, 8521915, 13594826, 32408710, 420592, 11685274, 773723, 204180, 14195181, 28819506, 7647656, 30467451, ss235654937, ss342337937, ss491026892, ss491457252, ss658239502, ss780902535, ss783589725, ss988794005, ss1067527102, ss1077919510, ss1342329583, ss1426708619, ss1584077365, ss1627130758, ss1670124791, ss1690580647, ss1711304832, ss1752037676, ss1917864817, ss1932153251, ss1946318729, ss1959373726, ss2026819437, ss2155131302, ss2739304950, ss2748714489, ss2902657370, ss2984952704, ss2985595468, ss3008520893, ss3021362316, ss3349717827, ss3626713834, ss3634468188, ss3640175527, ss3644571574, ss3646431085, ss3651728807, ss3653725047, ss3738400409, ss3744385771, ss3744769008, ss3749617169, ss3772268806, ss3824660861, ss3825806860, ss3832756621, ss3839936534, ss3876802526, ss3925231316, ss3984010763, ss3984654698, ss3985547796, ss3986540921, ss5237498577, ss5315563653, ss5401236915, ss5623954773, ss5624024416, ss5651748407, ss5799444886, ss5837012872, ss5847395170, ss5847642961, ss5848334229, ss5943070593, ss5979366829 | NC_000011.9:89017960:G:A | NC_000011.10:89284792:G:A | (self) |
| RCV000003978.12, RCV000003979.7, RCV000003980.7, RCV000003981.7, RCV000003982.7, RCV000085910.12, RCV000254054.4, RCV000379382.4, RCV000500466.12, RCV000626673.2, RCV000721172.2, RCV001269379.2, 72059304, 387377926, 661493, 85267242, 109974541, 13848930718, ss244239056, ss262857361, ss562055715, ss3649665519, ss3692296988, ss3814948979, ss3845417286, ss4894428885, ss5236898534, ss5237216183, ss5237658253, ss5288346877, ss5483405007, ss5584533369, ss5751430138, ss5921024389 | NC_000011.10:89284792:G:A | NC_000011.10:89284792:G:A | (self) |
| ss24409602, ss39943701, ss48297598, ss97497134, ss132039354, ss159724522 | NT_167190.1:34323755:G:A | NC_000011.10:89284792:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
47
citations for rs1126809
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 666627 | Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. | Bard LA et al. | 1978 | Archives of ophthalmology (Chicago, Ill. |
| 1429711 | Mutational mapping of the catalytic activities of human tyrosinase. | Tripathi RK et al. | 1992 | The Journal of biological chemistry |
| 1820207 | A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. | Tripathi RK et al. | 1991 | Gene expression |
| 1900307 | Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. | King RA et al. | 1991 | The Journal of clinical investigation |
| 7704033 | Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. | Fukai K et al. | 1995 | Nature genetics |
| 9158138 | Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). | Morell R et al. | 1997 | Human molecular genetics |
| 10766867 | A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. | Berson JF et al. | 2000 | The Journal of biological chemistry |
| 17952075 | Genetic determinants of hair, eye and skin pigmentation in Europeans. | Sulem P et al. | 2007 | Nature genetics |
| 18326704 | A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. | Hutton SM et al. | 2008 | Investigative ophthalmology & visual science |
| 18488027 | ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. | Gudbjartsson DF et al. | 2008 | Nature genetics |
| 18488028 | Two newly identified genetic determinants of pigmentation in Europeans. | Sulem P et al. | 2008 | Nature genetics |
| 18925668 | A new hypothesis of OCA1B. | Chiang PW et al. | 2008 | American journal of medical genetics. Part A |
| 19208379 | The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. | Oetting WS et al. | 2009 | American journal of medical genetics. Part A |
| 19320745 | Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. | Council ML et al. | 2009 | Experimental dermatology |
| 19340012 | Genome-wide association study of tanning phenotype in a population of European ancestry. | Nan H et al. | 2009 | The Journal of investigative dermatology |
| 19384953 | Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. | Nan H et al. | 2009 | International journal of cancer |
| 19533789 | Oculocutaneous albinism spectrum. | Chiang PW et al. | 2009 | American journal of medical genetics. Part A |
| 19578364 | Genome-wide association study identifies three loci associated with melanoma risk. | Bishop DT et al. | 2009 | Nature 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 |
| 20301345 | Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. | Lewis RA et al. | 1993 | GeneReviews(®) |
| 20410501 | Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | Jin Y et al. | 2010 | The New England journal of medicine |
| 20546537 | Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. | Gerstenblith MR et al. | 2010 | Pigment cell & melanoma research |
| 20585100 | Genome-wide association studies of cancer. | Stadler ZK et al. | 2010 | Journal of clinical oncology |
| 21221757 | ASIP genetic variants and the number of non-melanoma skin cancers. | Lin W et al. | 2011 | Cancer causes & control |
| 21541274 | Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. | Preising MN et al. | 2011 | Molecular vision |
| 23110848 | Human pigmentation genes under environmental selection. | Sturm RA et al. | 2012 | Genome biology |
| 23504663 | DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. | Simeonov DR et al. | 2013 | Human mutation |
| 24809478 | Implications of the admixture process in skin color molecular assessment. | Cerqueira CC et al. | 2014 | PloS one |
| 25077817 | Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. | Barrett JH et al. | 2015 | International journal of cancer |
| 25216246 | Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). | Ghodsinejad Kalahroudi V et al. | 2014 | PloS one |
| 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 |
| 26870082 | Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci. | Shen C et al. | 2016 | Frontiers in genetics |
| 27079684 | Genome-wide association studies and epigenome-wide association studies go together in cancer control. | Verma M et al. | 2016 | Future oncology (London, England) |
| 27424798 | Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27539887 | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | Chahal HS et al. | 2016 | Nature communications |
| 27716216 | The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. | Gerhard GS et al. | 2016 | BMC medical genomics |
| 29518100 | Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. | Nair-Shalliker V et al. | 2018 | PloS one |
| 30680790 | Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. | Rayner JE et al. | 2019 | Journal of the European Academy of Dermatology and Venereology |
| 32915910 | Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. | Meyer OS et al. | 2020 | PloS one |
| 33167923 | Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil. | Reis LB et al. | 2020 | BMC cancer |
| 33692100 | Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color. | Simcoe M et al. | 2021 | Science advances |
| 34071952 | Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. | Meyer OS 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 |
| 34373545 | Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. | Khoruddin NA et al. | 2021 | Scientific reports |
| 35803923 | The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. | Michaud V et al. | 2022 | Nature communications |
| 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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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.