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.
rs1800407
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:27985172 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.068721 (21060/306458, ALFA)T=0.048018 (12710/264690, TOPMED)T=0.046910 (11577/246792, GnomAD_exome) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- OCA2 : Missense Variant
- Publications
- 38 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 | 322926 | C=0.932372 | T=0.067628 |
| European | Sub | 270928 | C=0.926504 | T=0.073496 |
| African | Sub | 13502 | C=0.98571 | T=0.01429 |
| African Others | Sub | 488 | C=0.998 | T=0.002 |
| African American | Sub | 13014 | C=0.98525 | T=0.01475 |
| Asian | Sub | 6864 | C=0.9993 | T=0.0007 |
| East Asian | Sub | 4910 | C=0.9990 | T=0.0010 |
| Other Asian | Sub | 1954 | C=1.0000 | T=0.0000 |
| Latin American 1 | Sub | 1390 | C=0.9288 | T=0.0712 |
| Latin American 2 | Sub | 6614 | C=0.9506 | T=0.0494 |
| South Asian | Sub | 366 | C=0.995 | T=0.005 |
| Other | Sub | 23262 | C=0.94407 | T=0.05593 |
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 | 306458 | C=0.931279 | T=0.068721 |
| Allele Frequency Aggregator | European | Sub | 260746 | C=0.926093 | T=0.073907 |
| Allele Frequency Aggregator | Other | Sub | 21812 | C=0.94379 | T=0.05621 |
| Allele Frequency Aggregator | African | Sub | 8666 | C=0.9850 | T=0.0150 |
| Allele Frequency Aggregator | Asian | Sub | 6864 | C=0.9993 | T=0.0007 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6614 | C=0.9506 | T=0.0494 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1390 | C=0.9288 | T=0.0712 |
| Allele Frequency Aggregator | South Asian | Sub | 366 | C=0.995 | T=0.005 |
| TopMed | Global | Study-wide | 264690 | C=0.951982 | T=0.048018 |
| gnomAD - Exomes | Global | Study-wide | 246792 | C=0.953090 | T=0.046910 |
| gnomAD - Exomes | European | Sub | 131610 | C=0.938546 | T=0.061454 |
| gnomAD - Exomes | Asian | Sub | 48834 | C=0.97997 | T=0.02003 |
| gnomAD - Exomes | American | Sub | 34460 | C=0.95636 | T=0.04364 |
| gnomAD - Exomes | African | Sub | 15938 | C=0.98858 | T=0.01142 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9924 | C=0.9508 | T=0.0492 |
| gnomAD - Exomes | Other | Sub | 6026 | C=0.9441 | T=0.0559 |
| gnomAD - Genomes | Global | Study-wide | 140236 | C=0.950833 | T=0.049167 |
| gnomAD - Genomes | European | Sub | 75922 | C=0.93351 | T=0.06649 |
| gnomAD - Genomes | African | Sub | 42050 | C=0.98526 | T=0.01474 |
| gnomAD - Genomes | American | Sub | 13656 | C=0.93036 | T=0.06964 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.9504 | T=0.0496 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=0.9994 | T=0.0006 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.9493 | T=0.0507 |
| ExAC | Global | Study-wide | 118442 | C=0.955295 | T=0.044705 |
| ExAC | Europe | Sub | 71508 | C=0.94143 | T=0.05857 |
| ExAC | Asian | Sub | 24820 | C=0.97857 | T=0.02143 |
| ExAC | American | Sub | 11336 | C=0.96401 | T=0.03599 |
| ExAC | African | Sub | 9916 | C=0.9876 | T=0.0124 |
| ExAC | Other | Sub | 862 | C=0.949 | T=0.051 |
| The PAGE Study | Global | Study-wide | 78702 | C=0.97170 | T=0.02830 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | C=0.98438 | T=0.01562 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.95717 | T=0.04283 |
| The PAGE Study | Asian | Sub | 8318 | C=0.9987 | T=0.0013 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.9523 | T=0.0477 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.9799 | T=0.0201 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.9281 | T=0.0719 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.9572 | T=0.0428 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.9527 | T=0.0473 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.9511 | T=0.0489 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.9421 | T=0.0579 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.974 | T=0.026 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.99961 | T=0.00039 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.99952 | T=0.00048 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9735 | T=0.0265 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9989 | T=0.0011 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.9210 | T=0.0790 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.9742 | T=0.0258 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.9991 | T=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | C=0.963 | T=0.037 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9746 | T=0.0254 |
| 1000Genomes | African | Sub | 1322 | C=0.9985 | T=0.0015 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.9990 | T=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9245 | T=0.0755 |
| 1000Genomes | South Asian | Sub | 978 | C=0.973 | T=0.027 |
| 1000Genomes | American | Sub | 694 | C=0.968 | T=0.032 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9554 | T=0.0446 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9094 | T=0.0906 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9137 | T=0.0863 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.9997 | T=0.0003 |
| HapMap | Global | Study-wide | 1194 | C=0.9631 | T=0.0369 |
| HapMap | American | Sub | 670 | C=0.963 | T=0.037 |
| HapMap | African | Sub | 180 | C=0.994 | T=0.006 |
| HapMap | Europe | Sub | 176 | C=0.903 | T=0.097 |
| HapMap | Asian | Sub | 168 | C=0.994 | T=0.006 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | C=0.8768 | T=0.1232 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | C=0.815 | T=0.185 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.979 | T=0.021 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.959 | T=0.041 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.889 | T=0.111 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.99 | T=0.01 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.92 | T=0.08 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.963 | T=0.037 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.950 | T=0.050 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.963 | T=0.037 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.967 | T=0.033 |
| Qatari | Global | Study-wide | 216 | C=0.991 | T=0.009 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 80 | C=0.93 | T=0.07 |
| SGDP_PRJ | Global | Study-wide | 30 | C=0.50 | T=0.50 |
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 15 | NC_000015.10:g.27985172C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.28230318C>T |
| OCA2 RefSeqGene | NG_009846.1:g.119141G>A |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.119439C>T |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.119439C>T |
Gene: OCA2, OCA2 melanosomal transmembrane protein
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| OCA2 transcript variant 1 | NM_000275.3:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform 1 | NP_000266.2:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant 2 | NM_001300984.2:c.1184G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform 2 | NP_001287913.1:p.Arg395Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X1 | XM_017022255.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X1 | XP_016877744.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X2 | XM_011521640.3:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X2 | XP_011519942.1:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X3 | XM_017022256.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X3 | XP_016877745.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X4 | XM_017022257.2:c.1208G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X4 | XP_016877746.1:p.Arg403Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X5 | XM_017022258.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X5 | XP_016877747.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X6 | XM_047432605.1:c.1184G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X6 | XP_047288561.1:p.Arg395Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X7 | XM_047432606.1:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X7 | XP_047288562.1:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X8 | XM_017022259.2:c.1208G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X8 | XP_016877748.1:p.Arg403Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X9 | XM_017022260.2:c.1142G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X9 | XP_016877749.1:p.Arg381Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X10 | XM_047432607.1:c.1208G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X10 | XP_047288563.1:p.Arg403Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X11 | XM_047432608.1:c.1118G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X11 | XP_047288564.1:p.Arg373Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X12 | XM_047432609.1:c.1184G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X12 | XP_047288565.1:p.Arg395Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X13 | XM_047432610.1:c.1142G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X13 | XP_047288566.1:p.Arg381Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X14 | XM_017022261.2:c.1085G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X14 | XP_016877750.1:p.Arg362Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X15 | XM_017022262.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X15 | XP_016877751.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X16 | XM_047432611.1:c.1118G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X16 | XP_047288567.1:p.Arg373Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X17 | XM_017022263.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X17 | XP_016877752.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X18 | XM_047432612.1:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X18 | XP_047288568.1:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X19 | XM_047432613.1:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X19 | XP_047288569.1:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X20 | XM_017022264.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X20 | XP_016877753.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X21 | XM_047432614.1:c.1256G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X21 | XP_047288570.1:p.Arg419Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X22 | XM_047432615.1:c.1208G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X22 | XP_047288571.1:p.Arg403Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X23 | XM_047432616.1:c.1208G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X23 | XP_047288572.1:p.Arg403Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X24 | XM_047432617.1:c.1184G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X24 | XP_047288573.1:p.Arg395Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X25 | XM_047432618.1:c.1184G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X25 | XP_047288574.1:p.Arg395Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X26 | XM_047432619.1:c.1118G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X26 | XP_047288575.1:p.Arg373Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X27 | XM_017022265.2:c.1280G>A | R [CGG] > Q [CAG] | Coding Sequence Variant |
| P protein isoform X27 | XP_016877754.1:p.Arg427Gln | R (Arg) > Q (Gln) | Missense Variant |
| OCA2 transcript variant X28 | XR_001751294.2:n.3581G>A | N/A | Non Coding Transcript 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: T (allele ID:
16002
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000001014.6 | Skin/hair/eye pigmentation, variation in, 1 | Affects |
| RCV000252408.4 | not specified | Benign |
| RCV000397427.3 | Tyrosinase-positive oculocutaneous albinism | Benign |
| RCV001521859.4 | not provided | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | T |
|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.27985172= | NC_000015.10:g.27985172C>T |
| GRCh37.p13 chr 15 | NC_000015.9:g.28230318= | NC_000015.9:g.28230318C>T |
| OCA2 RefSeqGene | NG_009846.1:g.119141= | NG_009846.1:g.119141G>A |
| OCA2 transcript variant 1 | NM_000275.3:c.1256= | NM_000275.3:c.1256G>A |
| OCA2 transcript variant 1 | NM_000275.2:c.1256= | NM_000275.2:c.1256G>A |
| OCA2 transcript variant 2 | NM_001300984.2:c.1184= | NM_001300984.2:c.1184G>A |
| OCA2 transcript variant 2 | NM_001300984.1:c.1184= | NM_001300984.1:c.1184G>A |
| GRCh38.p14 chr 15 fix patch HG2139_PATCH | NW_011332701.1:g.119439= | NW_011332701.1:g.119439C>T |
| GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8 | NT_187660.1:g.119439= | NT_187660.1:g.119439C>T |
| OCA2 transcript variant X2 | XM_011521640.3:c.1256= | XM_011521640.3:c.1256G>A |
| OCA2 transcript variant X2 | XM_011521640.2:c.1256= | XM_011521640.2:c.1256G>A |
| OCA2 transcript variant X2 | XM_011521640.1:c.1256= | XM_011521640.1:c.1256G>A |
| OCA2 transcript variant X3 | XM_017022256.2:c.1280= | XM_017022256.2:c.1280G>A |
| OCA2 transcript variant X3 | XM_017022256.1:c.1280= | XM_017022256.1:c.1280G>A |
| OCA2 transcript variant X4 | XM_017022257.2:c.1208= | XM_017022257.2:c.1208G>A |
| OCA2 transcript variant X4 | XM_017022257.1:c.1208= | XM_017022257.1:c.1208G>A |
| OCA2 transcript variant X8 | XM_017022259.2:c.1208= | XM_017022259.2:c.1208G>A |
| OCA2 transcript variant X6 | XM_017022259.1:c.1208= | XM_017022259.1:c.1208G>A |
| OCA2 transcript variant X9 | XM_017022260.2:c.1142= | XM_017022260.2:c.1142G>A |
| OCA2 transcript variant X7 | XM_017022260.1:c.1142= | XM_017022260.1:c.1142G>A |
| OCA2 transcript variant X17 | XM_017022263.2:c.1280= | XM_017022263.2:c.1280G>A |
| OCA2 transcript variant X10 | XM_017022263.1:c.1280= | XM_017022263.1:c.1280G>A |
| OCA2 transcript variant X15 | XM_017022262.2:c.1280= | XM_017022262.2:c.1280G>A |
| OCA2 transcript variant X9 | XM_017022262.1:c.1280= | XM_017022262.1:c.1280G>A |
| OCA2 transcript variant X27 | XM_017022265.2:c.1280= | XM_017022265.2:c.1280G>A |
| OCA2 transcript variant X12 | XM_017022265.1:c.1280= | XM_017022265.1:c.1280G>A |
| OCA2 transcript variant X5 | XM_017022258.2:c.1280= | XM_017022258.2:c.1280G>A |
| OCA2 transcript variant X5 | XM_017022258.1:c.1280= | XM_017022258.1:c.1280G>A |
| OCA2 transcript variant X20 | XM_017022264.2:c.1280= | XM_017022264.2:c.1280G>A |
| OCA2 transcript variant X11 | XM_017022264.1:c.1280= | XM_017022264.1:c.1280G>A |
| OCA2 transcript variant X1 | XM_017022255.2:c.1280= | XM_017022255.2:c.1280G>A |
| OCA2 transcript variant X1 | XM_017022255.1:c.1280= | XM_017022255.1:c.1280G>A |
| OCA2 transcript variant X28 | XR_001751294.2:n.3581= | XR_001751294.2:n.3581G>A |
| OCA2 transcript variant X13 | XR_001751294.1:n.1369= | XR_001751294.1:n.1369G>A |
| OCA2 transcript variant X14 | XM_017022261.2:c.1085= | XM_017022261.2:c.1085G>A |
| OCA2 transcript variant X8 | XM_017022261.1:c.1085= | XM_017022261.1:c.1085G>A |
| OCA2 transcript variant X13 | XM_047432610.1:c.1142= | XM_047432610.1:c.1142G>A |
| OCA2 transcript variant X23 | XM_047432616.1:c.1208= | XM_047432616.1:c.1208G>A |
| OCA2 transcript variant X22 | XM_047432615.1:c.1208= | XM_047432615.1:c.1208G>A |
| OCA2 transcript variant X10 | XM_047432607.1:c.1208= | XM_047432607.1:c.1208G>A |
| OCA2 transcript variant X6 | XM_047432605.1:c.1184= | XM_047432605.1:c.1184G>A |
| OCA2 transcript variant X11 | XM_047432608.1:c.1118= | XM_047432608.1:c.1118G>A |
| OCA2 transcript variant X16 | XM_047432611.1:c.1118= | XM_047432611.1:c.1118G>A |
| OCA2 transcript variant X19 | XM_047432613.1:c.1256= | XM_047432613.1:c.1256G>A |
| OCA2 transcript variant X18 | XM_047432612.1:c.1256= | XM_047432612.1:c.1256G>A |
| OCA2 transcript variant X24 | XM_047432617.1:c.1184= | XM_047432617.1:c.1184G>A |
| OCA2 transcript variant X7 | XM_047432606.1:c.1256= | XM_047432606.1:c.1256G>A |
| OCA2 transcript variant X12 | XM_047432609.1:c.1184= | XM_047432609.1:c.1184G>A |
| OCA2 transcript variant X21 | XM_047432614.1:c.1256= | XM_047432614.1:c.1256G>A |
| OCA2 transcript variant X25 | XM_047432618.1:c.1184= | XM_047432618.1:c.1184G>A |
| OCA2 transcript variant X26 | XM_047432619.1:c.1118= | XM_047432619.1:c.1118G>A |
| P protein isoform 1 | NP_000266.2:p.Arg419= | NP_000266.2:p.Arg419Gln |
| P protein isoform 2 | NP_001287913.1:p.Arg395= | NP_001287913.1:p.Arg395Gln |
| P protein isoform X2 | XP_011519942.1:p.Arg419= | XP_011519942.1:p.Arg419Gln |
| P protein isoform X3 | XP_016877745.1:p.Arg427= | XP_016877745.1:p.Arg427Gln |
| P protein isoform X4 | XP_016877746.1:p.Arg403= | XP_016877746.1:p.Arg403Gln |
| P protein isoform X8 | XP_016877748.1:p.Arg403= | XP_016877748.1:p.Arg403Gln |
| P protein isoform X9 | XP_016877749.1:p.Arg381= | XP_016877749.1:p.Arg381Gln |
| P protein isoform X17 | XP_016877752.1:p.Arg427= | XP_016877752.1:p.Arg427Gln |
| P protein isoform X15 | XP_016877751.1:p.Arg427= | XP_016877751.1:p.Arg427Gln |
| P protein isoform X27 | XP_016877754.1:p.Arg427= | XP_016877754.1:p.Arg427Gln |
| P protein isoform X5 | XP_016877747.1:p.Arg427= | XP_016877747.1:p.Arg427Gln |
| P protein isoform X20 | XP_016877753.1:p.Arg427= | XP_016877753.1:p.Arg427Gln |
| P protein isoform X1 | XP_016877744.1:p.Arg427= | XP_016877744.1:p.Arg427Gln |
| P protein isoform X14 | XP_016877750.1:p.Arg362= | XP_016877750.1:p.Arg362Gln |
| P protein isoform X13 | XP_047288566.1:p.Arg381= | XP_047288566.1:p.Arg381Gln |
| P protein isoform X23 | XP_047288572.1:p.Arg403= | XP_047288572.1:p.Arg403Gln |
| P protein isoform X22 | XP_047288571.1:p.Arg403= | XP_047288571.1:p.Arg403Gln |
| P protein isoform X10 | XP_047288563.1:p.Arg403= | XP_047288563.1:p.Arg403Gln |
| P protein isoform X6 | XP_047288561.1:p.Arg395= | XP_047288561.1:p.Arg395Gln |
| P protein isoform X11 | XP_047288564.1:p.Arg373= | XP_047288564.1:p.Arg373Gln |
| P protein isoform X16 | XP_047288567.1:p.Arg373= | XP_047288567.1:p.Arg373Gln |
| P protein isoform X19 | XP_047288569.1:p.Arg419= | XP_047288569.1:p.Arg419Gln |
| P protein isoform X18 | XP_047288568.1:p.Arg419= | XP_047288568.1:p.Arg419Gln |
| P protein isoform X24 | XP_047288573.1:p.Arg395= | XP_047288573.1:p.Arg395Gln |
| P protein isoform X7 | XP_047288562.1:p.Arg419= | XP_047288562.1:p.Arg419Gln |
| P protein isoform X12 | XP_047288565.1:p.Arg395= | XP_047288565.1:p.Arg395Gln |
| P protein isoform X21 | XP_047288570.1:p.Arg419= | XP_047288570.1:p.Arg419Gln |
| P protein isoform X25 | XP_047288574.1:p.Arg395= | XP_047288574.1:p.Arg395Gln |
| P protein isoform X26 | XP_047288575.1:p.Arg373= | XP_047288575.1:p.Arg373Gln |
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#.
115 SubSNP,
23 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2420492 | Nov 14, 2000 (89) |
| 2 | SNP500CANCER | ss48296094 | Mar 13, 2006 (126) |
| 3 | APPLERA_GI | ss48429571 | Mar 13, 2006 (126) |
| 4 | PERLEGEN | ss69171462 | May 17, 2007 (127) |
| 5 | AFFY | ss74814245 | Aug 16, 2007 (128) |
| 6 | ILLUMINA | ss74905641 | Dec 06, 2007 (129) |
| 7 | KRIBB_YJKIM | ss119403922 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss160462820 | Dec 01, 2009 (131) |
| 9 | ILLUMINA | ss172924695 | Jul 04, 2010 (132) |
| 10 | BCM-HGSC-SUB | ss207291824 | Jul 04, 2010 (132) |
| 11 | 1000GENOMES | ss236722444 | Jul 15, 2010 (132) |
| 12 | OMIM-CURATED-RECORDS | ss275517646 | Dec 03, 2010 (133) |
| 13 | NHLBI-ESP | ss342398390 | May 09, 2011 (134) |
| 14 | ILLUMINA | ss480300415 | May 04, 2012 (137) |
| 15 | ILLUMINA | ss480311518 | May 04, 2012 (137) |
| 16 | ILLUMINA | ss481067070 | Sep 08, 2015 (146) |
| 17 | ILLUMINA | ss484948020 | May 04, 2012 (137) |
| 18 | 1000GENOMES | ss491078376 | May 04, 2012 (137) |
| 19 | EXOME_CHIP | ss491491333 | May 04, 2012 (137) |
| 20 | CLINSEQ_SNP | ss491696432 | May 04, 2012 (137) |
| 21 | ILLUMINA | ss536287425 | Sep 08, 2015 (146) |
| 22 | ILLUMINA | ss536992291 | Sep 08, 2015 (146) |
| 23 | ILLUMINA | ss778697557 | Aug 21, 2014 (142) |
| 24 | ILLUMINA | ss780706103 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss782920318 | Aug 21, 2014 (142) |
| 26 | ILLUMINA | ss783380667 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss783883353 | Aug 21, 2014 (142) |
| 28 | ILLUMINA | ss832175442 | Apr 01, 2015 (144) |
| 29 | ILLUMINA | ss834156412 | Aug 21, 2014 (142) |
| 30 | EVA-GONL | ss991623835 | Aug 21, 2014 (142) |
| 31 | JMKIDD_LAB | ss1067550298 | Aug 21, 2014 (142) |
| 32 | 1000GENOMES | ss1352819032 | Aug 21, 2014 (142) |
| 33 | HAMMER_LAB | ss1397692491 | Sep 08, 2015 (146) |
| 34 | EVA_FINRISK | ss1584092706 | Apr 01, 2015 (144) |
| 35 | EVA_UK10K_ALSPAC | ss1632670080 | Apr 01, 2015 (144) |
| 36 | EVA_UK10K_TWINSUK | ss1675664113 | Apr 01, 2015 (144) |
| 37 | EVA_EXAC | ss1691717126 | Apr 01, 2015 (144) |
| 38 | EVA_DECODE | ss1695635397 | Apr 01, 2015 (144) |
| 39 | EVA_MGP | ss1711390080 | Apr 01, 2015 (144) |
| 40 | EVA_SVP | ss1713477598 | Apr 01, 2015 (144) |
| 41 | ILLUMINA | ss1752154412 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss1752154413 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss1917893684 | Feb 12, 2016 (147) |
| 44 | WEILL_CORNELL_DGM | ss1935020885 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1946388468 | Feb 12, 2016 (147) |
| 46 | ILLUMINA | ss1959597426 | Feb 12, 2016 (147) |
| 47 | JJLAB | ss2028290773 | Sep 14, 2016 (149) |
| 48 | ILLUMINA | ss2095057508 | Dec 20, 2016 (150) |
| 49 | HUMAN_LONGEVITY | ss2205523925 | Dec 20, 2016 (150) |
| 50 | ILLUMINA | ss2633208648 | Nov 08, 2017 (151) |
| 51 | ILLUMINA | ss2635056513 | Nov 08, 2017 (151) |
| 52 | GNOMAD | ss2741065893 | Nov 08, 2017 (151) |
| 53 | GNOMAD | ss2749249550 | Nov 08, 2017 (151) |
| 54 | GNOMAD | ss2932980570 | Nov 08, 2017 (151) |
| 55 | AFFY | ss2985035039 | Nov 08, 2017 (151) |
| 56 | SWEGEN | ss3013005249 | Nov 08, 2017 (151) |
| 57 | ILLUMINA | ss3021616166 | Nov 08, 2017 (151) |
| 58 | CSHL | ss3351041754 | Nov 08, 2017 (151) |
| 59 | ILLUMINA | ss3625669071 | Oct 12, 2018 (152) |
| 60 | ILLUMINA | ss3627323239 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3627323240 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3631202974 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3633091625 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3633795976 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3634597925 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3634597926 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3635485048 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3636288172 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3637236279 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3638075871 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3640305252 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3640305253 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3643060582 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3644641591 | Oct 12, 2018 (152) |
| 75 | BIOINF_KMB_FNS_UNIBA | ss3645373296 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3652015501 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3652015502 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3653806756 | Oct 12, 2018 (152) |
| 79 | EGCUT_WGS | ss3680176776 | Jul 13, 2019 (153) |
| 80 | EVA_DECODE | ss3697583511 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3725484681 | Jul 13, 2019 (153) |
| 82 | ACPOP | ss3740786820 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3744417182 | Jul 13, 2019 (153) |
| 84 | ILLUMINA | ss3744898491 | Jul 13, 2019 (153) |
| 85 | ILLUMINA | ss3744898492 | Jul 13, 2019 (153) |
| 86 | EVA | ss3752890714 | Jul 13, 2019 (153) |
| 87 | PAGE_CC | ss3771818414 | Jul 13, 2019 (153) |
| 88 | ILLUMINA | ss3772397207 | Jul 13, 2019 (153) |
| 89 | ILLUMINA | ss3772397208 | Jul 13, 2019 (153) |
| 90 | EVA | ss3824896939 | Apr 27, 2020 (154) |
| 91 | EVA | ss3825854731 | Apr 27, 2020 (154) |
| 92 | SGDP_PRJ | ss3882550894 | Apr 27, 2020 (154) |
| 93 | KRGDB | ss3931674812 | Apr 27, 2020 (154) |
| 94 | EVA | ss3985706978 | Apr 26, 2021 (155) |
| 95 | EVA | ss3986639131 | Apr 26, 2021 (155) |
| 96 | EVA | ss4017693092 | Apr 26, 2021 (155) |
| 97 | TOPMED | ss4985701083 | Apr 26, 2021 (155) |
| 98 | TOMMO_GENOMICS | ss5215402591 | Apr 26, 2021 (155) |
| 99 | EVA | ss5236921794 | Apr 26, 2021 (155) |
| 100 | EVA | ss5237663525 | Oct 16, 2022 (156) |
| 101 | 1000G_HIGH_COVERAGE | ss5297858397 | Oct 16, 2022 (156) |
| 102 | EVA | ss5418191601 | Oct 16, 2022 (156) |
| 103 | HUGCELL_USP | ss5491674861 | Oct 16, 2022 (156) |
| 104 | 1000G_HIGH_COVERAGE | ss5598968801 | Oct 16, 2022 (156) |
| 105 | SANFORD_IMAGENETICS | ss5657174294 | Oct 16, 2022 (156) |
| 106 | TOMMO_GENOMICS | ss5768976914 | Oct 16, 2022 (156) |
| 107 | EVA | ss5799404132 | Oct 16, 2022 (156) |
| 108 | EVA | ss5799453269 | Oct 16, 2022 (156) |
| 109 | EVA | ss5799933030 | Oct 16, 2022 (156) |
| 110 | EVA | ss5827982643 | Oct 16, 2022 (156) |
| 111 | EVA | ss5847736141 | Oct 16, 2022 (156) |
| 112 | EVA | ss5848396485 | Oct 16, 2022 (156) |
| 113 | EVA | ss5875247891 | Oct 16, 2022 (156) |
| 114 | EVA | ss5948584870 | Oct 16, 2022 (156) |
| 115 | EVA | ss5981287967 | Oct 16, 2022 (156) |
| 116 | 1000Genomes | NC_000015.9 - 28230318 | Oct 12, 2018 (152) |
| 117 | 1000Genomes_30x | NC_000015.10 - 27985172 | Oct 16, 2022 (156) |
| 118 | The Avon Longitudinal Study of Parents and Children | NC_000015.9 - 28230318 | Oct 12, 2018 (152) |
| 119 | Genome-wide autozygosity in Daghestan | NC_000015.8 - 25903913 | Apr 27, 2020 (154) |
| 120 | Genetic variation in the Estonian population | NC_000015.9 - 28230318 | Oct 12, 2018 (152) |
| 121 | ExAC | NC_000015.9 - 28230318 | Oct 12, 2018 (152) |
| 122 | FINRISK | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 123 | gnomAD - Genomes | NC_000015.10 - 27985172 | Apr 26, 2021 (155) |
| 124 | gnomAD - Exomes | NC_000015.9 - 28230318 | Jul 13, 2019 (153) |
| 125 | Genome of the Netherlands Release 5 | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 126 | HapMap | NC_000015.10 - 27985172 | Apr 27, 2020 (154) |
| 127 | KOREAN population from KRGDB | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 128 | Medical Genome Project healthy controls from Spanish population | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 129 | Northern Sweden | NC_000015.9 - 28230318 | Jul 13, 2019 (153) |
| 130 | The PAGE Study | NC_000015.10 - 27985172 | Jul 13, 2019 (153) |
| 131 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000015.9 - 28230318 | Apr 26, 2021 (155) |
| 132 | Qatari | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 133 | SGDP_PRJ | NC_000015.9 - 28230318 | Apr 27, 2020 (154) |
| 134 | 8.3KJPN | NC_000015.9 - 28230318 | Apr 26, 2021 (155) |
| 135 | 14KJPN | NC_000015.10 - 27985172 | Oct 16, 2022 (156) |
| 136 | TopMed | NC_000015.10 - 27985172 | Apr 26, 2021 (155) |
| 137 | UK 10K study - Twins | NC_000015.9 - 28230318 | Oct 12, 2018 (152) |
| 138 | ALFA | NC_000015.10 - 27985172 | Apr 26, 2021 (155) |
| 139 | ClinVar | RCV000001014.6 | Oct 12, 2018 (152) |
| 140 | ClinVar | RCV000252408.4 | Oct 16, 2022 (156) |
| 141 | ClinVar | RCV000397427.3 | Oct 16, 2022 (156) |
| 142 | ClinVar | RCV001521859.4 | 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) |
|---|---|
| rs52791072 | Sep 21, 2007 (128) |
| rs386545578 | Aug 06, 2014 (136) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 162713, ss207291824, ss480300415, ss491696432, ss1397692491, ss1695635397, ss1713477598, ss2635056513, ss3643060582 | NC_000015.8:25903912:C:T | NC_000015.10:27985171:C:T | (self) |
| 65866084, 36574040, 25915024, 2081886, 89167, 10329206, 16337774, 38852206, 505840, 14071685, 932905, 17062815, 34567874, 73371898, 36574040, ss236722444, ss342398390, ss480311518, ss481067070, ss484948020, ss491078376, ss491491333, ss536287425, ss536992291, ss778697557, ss780706103, ss782920318, ss783380667, ss783883353, ss832175442, ss834156412, ss991623835, ss1067550298, ss1352819032, ss1584092706, ss1632670080, ss1675664113, ss1691717126, ss1711390080, ss1752154412, ss1752154413, ss1917893684, ss1935020885, ss1946388468, ss1959597426, ss2028290773, ss2095057508, ss2633208648, ss2741065893, ss2749249550, ss2932980570, ss2985035039, ss3013005249, ss3021616166, ss3351041754, ss3625669071, ss3627323239, ss3627323240, ss3631202974, ss3633091625, ss3633795976, ss3634597925, ss3634597926, ss3635485048, ss3636288172, ss3637236279, ss3638075871, ss3640305252, ss3640305253, ss3644641591, ss3652015501, ss3652015502, ss3653806756, ss3680176776, ss3740786820, ss3744417182, ss3744898491, ss3744898492, ss3752890714, ss3772397207, ss3772397208, ss3824896939, ss3825854731, ss3882550894, ss3931674812, ss3985706978, ss3986639131, ss4017693092, ss5215402591, ss5418191601, ss5657174294, ss5799404132, ss5799453269, ss5799933030, ss5827982643, ss5847736141, ss5848396485, ss5948584870, ss5981287967 | NC_000015.9:28230317:C:T | NC_000015.10:27985171:C:T | (self) |
| RCV000001014.6, RCV000252408.4, RCV000397427.3, RCV001521859.4, 86494736, 464260914, 1232497, 1039883, 102814018, 201246743, 12150871177, ss275517646, ss2205523925, ss3645373296, ss3697583511, ss3725484681, ss3771818414, ss4985701083, ss5236921794, ss5237663525, ss5297858397, ss5491674861, ss5598968801, ss5768976914, ss5875247891 | NC_000015.10:27985171:C:T | NC_000015.10:27985171:C:T | (self) |
| ss2420492, ss48296094, ss48429571, ss69171462, ss74814245, ss74905641, ss119403922, ss160462820, ss172924695 | NT_026446.14:4665464:C:T | NC_000015.10:27985171:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
38
citations for rs1800407
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 12163334 | P gene as an inherited biomarker of human eye color. | Rebbeck TR et al. | 2002 | Cancer epidemiology, biomarkers & prevention |
| 15889046 | Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. | Jannot AS et al. | 2005 | European journal of human genetics |
| 17236130 | A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. | Duffy DL et al. | 2007 | American journal of human genetics |
| 18093281 | Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method. | Branicki W et al. | 2008 | Annals of human genetics |
| 18252222 | A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. | Sturm RA et al. | 2008 | American journal of human genetics |
| 19208107 | Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype. | Branicki W et al. | 2009 | Annals of human genetics |
| 19320733 | Pigmentation-related genes and their implication in malignant melanoma susceptibility. | Fernandez LP et al. | 2009 | Experimental 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 |
| 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 |
| 20042077 | Genetic determinants of hair and eye colours in the Scottish and Danish populations. | Mengel-From J et al. | 2009 | BMC genetics |
| 20158590 | Predicting phenotype from genotype: normal pigmentation. | Valenzuela RK et al. | 2010 | Journal of forensic sciences |
| 20457063 | Human eye colour and HERC2, OCA2 and MATP. | Mengel-From J et al. | 2010 | Forensic science international. Genetics |
| 20463881 | Digital quantification of human eye color highlights genetic association of three new loci. | Liu F et al. | 2010 | PLoS genetics |
| 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 |
| 21674838 | Genetic examination of the putative skull of Jan Kochanowski reveals its female sex. | Kupiec T et al. | 2011 | Croatian medical journal |
| 21926416 | Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. | Amos CI et al. | 2011 | Human molecular genetics |
| 22065085 | A global view of the OCA2-HERC2 region and pigmentation. | Donnelly MP et al. | 2012 | Human genetics |
| 23948321 | Genetic analyses of the human eye colours using a novel objective method for eye colour classification. | Andersen JD et al. | 2013 | Forensic science international. Genetics |
| 24631691 | The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model. | Pietroni C et al. | 2014 | Forensic science international. Genetics |
| 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 |
| 24880832 | Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. | Chaitanya L et al. | 2014 | Forensic science international. Genetics |
| 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 |
| 26547235 | Crowdsourced direct-to-consumer genomic analysis of a family quartet. | Corpas M et al. | 2015 | BMC genomics |
| 26567291 | Novel Genetic Loci Associated With Retinal Microvascular Diameter. | Jensen RA et al. | 2016 | Circulation. Cardiovascular genetics |
| 26848990 | Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma. | Fesenko DO et al. | 2016 | Genetic testing and molecular biomarkers |
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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.