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dbSNP Short Genetic Variations

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.

rs1800414

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr15:27951891 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.04322 (10620/245748, GnomAD)
C=0.0319 (988/30966, GnomAD)
C=0.0005 (7/13006, GO-ESP) (+ 4 more)
C=0.121 (606/5008, 1000G)
C=0.000 (2/4480, Estonian)
C=0.002 (7/3854, ALSPAC)
C=0.000 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
OCA2 : Missense Variant
Publications
16 citations
Genomic View
See rs on genome
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.p12 chr 15 NC_000015.10:g.27951891T>A
GRCh38.p12 chr 15 NC_000015.10:g.27951891T>C
GRCh37.p13 chr 15 NC_000015.9:g.28197037T>A
GRCh37.p13 chr 15 NC_000015.9:g.28197037T>C
OCA2 RefSeqGene NG_009846.1:g.152422A>T
OCA2 RefSeqGene NG_009846.1:g.152422A>G
GRCh38.p12 chr 15 fix patch HG2139_PATCH NW_011332701.1:g.86178T>A
GRCh38.p12 chr 15 fix patch HG2139_PATCH NW_011332701.1:g.86178T>C
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.86178T>A
GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.86178T>C
Gene: OCA2, OCA2 melanosomal transmembrane protein (minus strand)
Molecule type Change Amino acid[Codon] SO Term
OCA2 transcript variant 1 NM_000275.2:c.1844A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform 1 NP_000266.2:p.His615Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant 1 NM_000275.2:c.1844A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform 1 NP_000266.2:p.His615Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant 2 NM_001300984.1:c.1772A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform 2 NP_001287913.1:p.His591Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant 2 NM_001300984.1:c.1772A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform 2 NP_001287913.1:p.His591Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X1 XM_017022255.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X1 XP_016877744.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X1 XM_017022255.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X1 XP_016877744.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X2 XM_011521640.2:c.1844A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X2 XP_011519942.1:p.His615Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X2 XM_011521640.2:c.1844A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X2 XP_011519942.1:p.His615Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X3 XM_017022256.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X3 XP_016877745.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X3 XM_017022256.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X3 XP_016877745.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X4 XM_017022257.1:c.1796A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X4 XP_016877746.1:p.His599Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X4 XM_017022257.1:c.1796A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X4 XP_016877746.1:p.His599Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X5 XM_017022258.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X5 XP_016877747.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X5 XM_017022258.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X5 XP_016877747.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X6 XM_017022259.1:c.1796A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X6 XP_016877748.1:p.His599Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X6 XM_017022259.1:c.1796A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X6 XP_016877748.1:p.His599Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X7 XM_017022260.1:c.1730A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X7 XP_016877749.1:p.His577Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X7 XM_017022260.1:c.1730A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X7 XP_016877749.1:p.His577Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X8 XM_017022261.1:c.1673A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X8 XP_016877750.1:p.His558Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X8 XM_017022261.1:c.1673A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X8 XP_016877750.1:p.His558Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X9 XM_017022262.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X9 XP_016877751.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X9 XM_017022262.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X9 XP_016877751.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X10 XM_017022263.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X10 XP_016877752.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X10 XM_017022263.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X10 XP_016877752.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X11 XM_017022264.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X11 XP_016877753.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X11 XM_017022264.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X11 XP_016877753.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X12 XM_017022265.1:c.1868A>T H [CAT] > L [CTT] Coding Sequence Variant
P protein isoform X12 XP_016877754.1:p.His623Leu H (His) > L (Leu) Missense Variant
OCA2 transcript variant X12 XM_017022265.1:c.1868A>G H [CAT] > R [CGT] Coding Sequence Variant
P protein isoform X12 XP_016877754.1:p.His623Arg H (His) > R (Arg) Missense Variant
OCA2 transcript variant X13 XR_001751294.1:n. N/A Genic Downstream 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: C (allele ID: 255138 )
ClinVar Accession Disease Names Clinical Significance
RCV000245098.2 not specified Benign
RCV000259507.1 Oculocutaneous albinism Benign
Help

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
gnomAD - Exomes Global Study-wide 245748 T=0.95678 A=0.00000, C=0.04322
gnomAD - Exomes European Sub 133666 T=0.99982 A=0.00000, C=0.00018
gnomAD - Exomes Asian Sub 47900 T=0.7815 A=0.0000, C=0.2185
gnomAD - Exomes American Sub 33580 T=0.9992 A=0.0000, C=0.0008
gnomAD - Exomes African Sub 15276 T=0.9985 A=0.0000, C=0.0015
gnomAD - Exomes Ashkenazi Jewish Sub 9848 T=0.999 A=0.000, C=0.001
gnomAD - Exomes Other Sub 5478 T=0.987 A=0.000, C=0.013
gnomAD - Genomes Global Study-wide 30966 T=0.9681 C=0.0319
gnomAD - Genomes European Sub 18500 T=0.9996 C=0.0004
gnomAD - Genomes African Sub 8728 T=0.999 C=0.001
gnomAD - Genomes East Asian Sub 1616 T=0.405 C=0.595
gnomAD - Genomes Other Sub 982 T=0.99 C=0.01
gnomAD - Genomes American Sub 838 T=1.00 C=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 T=1.00 C=0.00
GO Exome Sequencing Project Global Study-wide 13006 T=0.9995 C=0.0005
GO Exome Sequencing Project European American Sub 8600 T=1.000 C=0.000
GO Exome Sequencing Project African American Sub 4406 T=0.999 C=0.001
1000Genomes Global Study-wide 5008 T=0.879 C=0.121
1000Genomes African Sub 1322 T=0.999 C=0.001
1000Genomes East Asian Sub 1008 T=0.404 C=0.596
1000Genomes Europe Sub 1006 T=1.000 C=0.000
1000Genomes South Asian Sub 978 T=1.00 C=0.00
1000Genomes American Sub 694 T=1.00 C=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 T=1.000 C=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.998 C=0.002
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=1.000 C=0.000
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A C Note
GRCh38.p12 chr 15 NC_000015.10:g.27...

NC_000015.10:g.27951891T=

NC_000015.10:g.27...

NC_000015.10:g.27951891T>A

NC_000015.10:g.27...

NC_000015.10:g.27951891T>C

GRCh37.p13 chr 15 NC_000015.9:g.281...

NC_000015.9:g.28197037T=

NC_000015.9:g.281...

NC_000015.9:g.28197037T>A

NC_000015.9:g.281...

NC_000015.9:g.28197037T>C

OCA2 RefSeqGene NG_009846.1:g.152...

NG_009846.1:g.152422A=

NG_009846.1:g.152...

NG_009846.1:g.152422A>T

NG_009846.1:g.152...

NG_009846.1:g.152422A>G

OCA2 transcript variant 1 NM_000275.2:c.1844A= NM_000275.2:c.184...

NM_000275.2:c.1844A>T

NM_000275.2:c.184...

NM_000275.2:c.1844A>G

OCA2 transcript variant 2 NM_001300984.1:c....

NM_001300984.1:c.1772A=

NM_001300984.1:c....

NM_001300984.1:c.1772A>T

NM_001300984.1:c....

NM_001300984.1:c.1772A>G

GRCh38.p12 chr 15 fix patch HG2139_PATCH NW_011332701.1:g....

NW_011332701.1:g.86178T=

NW_011332701.1:g....

NW_011332701.1:g.86178T>A

NW_011332701.1:g....

NW_011332701.1:g.86178T>C

GRCh38.p12 chr 15 alt locus HSCHR15_4_CTG8 NT_187660.1:g.861...

NT_187660.1:g.86178T=

NT_187660.1:g.861...

NT_187660.1:g.86178T>A

NT_187660.1:g.861...

NT_187660.1:g.86178T>C

OCA2 transcript variant X2 XM_011521640.2:c....

XM_011521640.2:c.1844A=

XM_011521640.2:c....

XM_011521640.2:c.1844A>T

XM_011521640.2:c....

XM_011521640.2:c.1844A>G

OCA2 transcript variant X8 XM_017022261.1:c....

XM_017022261.1:c.1673A=

XM_017022261.1:c....

XM_017022261.1:c.1673A>T

XM_017022261.1:c....

XM_017022261.1:c.1673A>G

OCA2 transcript variant X3 XM_017022256.1:c....

XM_017022256.1:c.1868A=

XM_017022256.1:c....

XM_017022256.1:c.1868A>T

XM_017022256.1:c....

XM_017022256.1:c.1868A>G

OCA2 transcript variant X1 XM_017022255.1:c....

XM_017022255.1:c.1868A=

XM_017022255.1:c....

XM_017022255.1:c.1868A>T

XM_017022255.1:c....

XM_017022255.1:c.1868A>G

OCA2 transcript variant X4 XM_017022257.1:c....

XM_017022257.1:c.1796A=

XM_017022257.1:c....

XM_017022257.1:c.1796A>T

XM_017022257.1:c....

XM_017022257.1:c.1796A>G

OCA2 transcript variant X6 XM_017022259.1:c....

XM_017022259.1:c.1796A=

XM_017022259.1:c....

XM_017022259.1:c.1796A>T

XM_017022259.1:c....

XM_017022259.1:c.1796A>G

OCA2 transcript variant X7 XM_017022260.1:c....

XM_017022260.1:c.1730A=

XM_017022260.1:c....

XM_017022260.1:c.1730A>T

XM_017022260.1:c....

XM_017022260.1:c.1730A>G

OCA2 transcript variant X10 XM_017022263.1:c....

XM_017022263.1:c.1868A=

XM_017022263.1:c....

XM_017022263.1:c.1868A>T

XM_017022263.1:c....

XM_017022263.1:c.1868A>G

OCA2 transcript variant X9 XM_017022262.1:c....

XM_017022262.1:c.1868A=

XM_017022262.1:c....

XM_017022262.1:c.1868A>T

XM_017022262.1:c....

XM_017022262.1:c.1868A>G

OCA2 transcript variant X5 XM_017022258.1:c....

XM_017022258.1:c.1868A=

XM_017022258.1:c....

XM_017022258.1:c.1868A>T

XM_017022258.1:c....

XM_017022258.1:c.1868A>G

OCA2 transcript variant X11 XM_017022264.1:c....

XM_017022264.1:c.1868A=

XM_017022264.1:c....

XM_017022264.1:c.1868A>T

XM_017022264.1:c....

XM_017022264.1:c.1868A>G

OCA2 transcript variant X12 XM_017022265.1:c....

XM_017022265.1:c.1868A=

XM_017022265.1:c....

XM_017022265.1:c.1868A>T

XM_017022265.1:c....

XM_017022265.1:c.1868A>G

P protein isoform 1 NP_000266.2:p.His...

NP_000266.2:p.His615=

NP_000266.2:p.His...

NP_000266.2:p.His615Leu

NP_000266.2:p.His...

NP_000266.2:p.His615Arg

P protein isoform 2 NP_001287913.1:p....

NP_001287913.1:p.His591=

NP_001287913.1:p....

NP_001287913.1:p.His591Leu

NP_001287913.1:p....

NP_001287913.1:p.His591Arg

P protein isoform X2 XP_011519942.1:p....

XP_011519942.1:p.His615=

XP_011519942.1:p....

XP_011519942.1:p.His615Leu

XP_011519942.1:p....

XP_011519942.1:p.His615Arg

P protein isoform X8 XP_016877750.1:p....

XP_016877750.1:p.His558=

XP_016877750.1:p....

XP_016877750.1:p.His558Leu

XP_016877750.1:p....

XP_016877750.1:p.His558Arg

P protein isoform X3 XP_016877745.1:p....

XP_016877745.1:p.His623=

XP_016877745.1:p....

XP_016877745.1:p.His623Leu

XP_016877745.1:p....

XP_016877745.1:p.His623Arg

P protein isoform X1 XP_016877744.1:p....

XP_016877744.1:p.His623=

XP_016877744.1:p....

XP_016877744.1:p.His623Leu

XP_016877744.1:p....

XP_016877744.1:p.His623Arg

P protein isoform X4 XP_016877746.1:p....

XP_016877746.1:p.His599=

XP_016877746.1:p....

XP_016877746.1:p.His599Leu

XP_016877746.1:p....

XP_016877746.1:p.His599Arg

P protein isoform X6 XP_016877748.1:p....

XP_016877748.1:p.His599=

XP_016877748.1:p....

XP_016877748.1:p.His599Leu

XP_016877748.1:p....

XP_016877748.1:p.His599Arg

P protein isoform X7 XP_016877749.1:p....

XP_016877749.1:p.His577=

XP_016877749.1:p....

XP_016877749.1:p.His577Leu

XP_016877749.1:p....

XP_016877749.1:p.His577Arg

P protein isoform X10 XP_016877752.1:p....

XP_016877752.1:p.His623=

XP_016877752.1:p....

XP_016877752.1:p.His623Leu

XP_016877752.1:p....

XP_016877752.1:p.His623Arg

P protein isoform X9 XP_016877751.1:p....

XP_016877751.1:p.His623=

XP_016877751.1:p....

XP_016877751.1:p.His623Leu

XP_016877751.1:p....

XP_016877751.1:p.His623Arg

P protein isoform X5 XP_016877747.1:p....

XP_016877747.1:p.His623=

XP_016877747.1:p....

XP_016877747.1:p.His623Leu

XP_016877747.1:p....

XP_016877747.1:p.His623Arg

P protein isoform X11 XP_016877753.1:p....

XP_016877753.1:p.His623=

XP_016877753.1:p....

XP_016877753.1:p.His623Leu

XP_016877753.1:p....

XP_016877753.1:p.His623Arg

P protein isoform X12 XP_016877754.1:p....

XP_016877754.1:p.His623=

XP_016877754.1:p....

XP_016877754.1:p.His623Leu

XP_016877754.1:p....

XP_016877754.1:p.His623Arg

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#.

83 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420499 Nov 14, 2000 (89)
2 YUSUKE ss3252396 Sep 28, 2001 (100)
3 PERLEGEN ss24189239 Sep 20, 2004 (123)
4 SNP500CANCER ss48296088 Mar 15, 2006 (126)
5 ILLUMINA ss65725873 Oct 16, 2006 (127)
6 AFFY ss66176469 Dec 01, 2006 (127)
7 PERLEGEN ss69171455 May 17, 2007 (127)
8 ILLUMINA ss74906892 Dec 07, 2007 (129)
9 AFFY ss76236547 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss81586877 Dec 15, 2007 (130)
11 HGSV ss82705922 Dec 15, 2007 (130)
12 BGI ss103224298 Dec 01, 2009 (131)
13 SEATTLESEQ ss159730248 Dec 01, 2009 (131)
14 ILLUMINA ss160462823 Dec 01, 2009 (131)
15 AFFY ss172920763 Jul 04, 2010 (132)
16 ILLUMINA ss172924703 Jul 04, 2010 (132)
17 1000GENOMES ss243120426 Jul 15, 2010 (132)
18 GMI ss282192650 May 04, 2012 (137)
19 NHLBI-ESP ss342398360 May 09, 2011 (134)
20 ILLUMINA ss480300423 May 04, 2012 (137)
21 ILLUMINA ss480311526 May 04, 2012 (137)
22 ILLUMINA ss481067082 Sep 08, 2015 (146)
23 ILLUMINA ss484948024 May 04, 2012 (137)
24 1000GENOMES ss491078354 May 04, 2012 (137)
25 EXOME_CHIP ss491491317 May 04, 2012 (137)
26 CLINSEQ_SNP ss491696419 May 04, 2012 (137)
27 ILLUMINA ss536992292 Sep 08, 2015 (146)
28 SSMP ss660095183 Apr 25, 2013 (138)
29 ILLUMINA ss778697558 Sep 08, 2015 (146)
30 ILLUMINA ss780706086 Aug 21, 2014 (142)
31 ILLUMINA ss782920320 Sep 08, 2015 (146)
32 ILLUMINA ss783380650 Aug 21, 2014 (142)
33 ILLUMINA ss783883354 Sep 08, 2015 (146)
34 ILLUMINA ss832175444 Sep 08, 2015 (146)
35 ILLUMINA ss834156413 Sep 08, 2015 (146)
36 JMKIDD_LAB ss1067550287 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1080002725 Aug 21, 2014 (142)
38 1000GENOMES ss1352818075 Aug 21, 2014 (142)
39 EVA_UK10K_ALSPAC ss1632669625 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1675663658 Apr 01, 2015 (144)
41 EVA_EXAC ss1691716898 Apr 01, 2015 (144)
42 EVA_EXAC ss1691716899 Apr 01, 2015 (144)
43 EVA_DECODE ss1695635172 Apr 01, 2015 (144)
44 EVA_SVP ss1713477579 Apr 01, 2015 (144)
45 ILLUMINA ss1752154387 Sep 08, 2015 (146)
46 ILLUMINA ss1752154388 Sep 08, 2015 (146)
47 ILLUMINA ss1917893668 Feb 12, 2016 (147)
48 WEILL_CORNELL_DGM ss1935020705 Feb 12, 2016 (147)
49 ILLUMINA ss1946388448 Feb 12, 2016 (147)
50 ILLUMINA ss1959597393 Feb 12, 2016 (147)
51 JJLAB ss2028290664 Sep 14, 2016 (149)
52 ILLUMINA ss2095057500 Dec 20, 2016 (150)
53 USC_VALOUEV ss2156687639 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2205521927 Dec 20, 2016 (150)
55 TOPMED ss2370057282 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2628638446 Nov 08, 2017 (151)
57 ILLUMINA ss2633208611 Nov 08, 2017 (151)
58 ILLUMINA ss2635056506 Nov 08, 2017 (151)
59 GRF ss2701146665 Nov 08, 2017 (151)
60 ILLUMINA ss2710811758 Nov 08, 2017 (151)
61 GNOMAD ss2741065578 Nov 08, 2017 (151)
62 GNOMAD ss2749249442 Nov 08, 2017 (151)
63 GNOMAD ss2932978028 Nov 08, 2017 (151)
64 AFFY ss2985035015 Nov 08, 2017 (151)
65 ILLUMINA ss3021616126 Nov 08, 2017 (151)
66 TOPMED ss3223213652 Nov 08, 2017 (151)
67 ILLUMINA ss3627323169 Oct 12, 2018 (152)
68 ILLUMINA ss3627323170 Oct 12, 2018 (152)
69 ILLUMINA ss3631202938 Oct 12, 2018 (152)
70 ILLUMINA ss3633091615 Oct 12, 2018 (152)
71 ILLUMINA ss3633795966 Oct 12, 2018 (152)
72 ILLUMINA ss3634597899 Oct 12, 2018 (152)
73 ILLUMINA ss3634597900 Oct 12, 2018 (152)
74 ILLUMINA ss3636288158 Oct 12, 2018 (152)
75 ILLUMINA ss3637236269 Oct 12, 2018 (152)
76 ILLUMINA ss3638075858 Oct 12, 2018 (152)
77 ILLUMINA ss3640305226 Oct 12, 2018 (152)
78 ILLUMINA ss3640305227 Oct 12, 2018 (152)
79 ILLUMINA ss3643060569 Oct 12, 2018 (152)
80 ILLUMINA ss3644641571 Oct 12, 2018 (152)
81 ILLUMINA ss3652015453 Oct 12, 2018 (152)
82 ILLUMINA ss3652015454 Oct 12, 2018 (152)
83 ILLUMINA ss3653806730 Oct 12, 2018 (152)
84 1000Genomes NC_000015.9 - 28197037 Oct 12, 2018 (152)
85 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 28197037 Oct 12, 2018 (152)
86 Genetic variation in the Estonian population NC_000015.9 - 28197037 Oct 12, 2018 (152)
87 ExAC

Submission ignored due to conflicting rows:
Row 2081650 (NC_000015.9:28197036:T:T 111003/116270, NC_000015.9:28197036:T:C 5267/116270)
Row 2081651 (NC_000015.9:28197036:T:T 116269/116270, NC_000015.9:28197036:T:A 1/116270)

- Oct 12, 2018 (152)
88 ExAC

Submission ignored due to conflicting rows:
Row 2081650 (NC_000015.9:28197036:T:T 111003/116270, NC_000015.9:28197036:T:C 5267/116270)
Row 2081651 (NC_000015.9:28197036:T:T 116269/116270, NC_000015.9:28197036:T:A 1/116270)

- Oct 12, 2018 (152)
89 gnomAD - Genomes NC_000015.9 - 28197037 Oct 12, 2018 (152)
90 gnomAD - Exomes NC_000015.9 - 28197037 Oct 12, 2018 (152)
91 GO Exome Sequencing Project NC_000015.9 - 28197037 Oct 12, 2018 (152)
92 UK 10K study - Twins NC_000015.9 - 28197037 Oct 12, 2018 (152)
93 ClinVar RCV000245098.2 Oct 12, 2018 (152)
94 ClinVar RCV000259507.1 Oct 12, 2018 (152)
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)
rs17747910 Oct 08, 2004 (123)
rs59293677 Feb 27, 2009 (130)
rs61029848 May 26, 2008 (130)
rs386545579 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss66176469, ss76236547, ss82705922, ss172920763, ss282192650, ss480300423, ss491696419, ss1695635172, ss1713477579, ss2635056506, ss3643060569 NC_000015.8:25870631:T= NC_000015.10:27951890:T= (self)
65865102, 36573533, 25914688, 66679554, 8161149, 1354167, 36573533, ss243120426, ss342398360, ss480311526, ss481067082, ss484948024, ss491078354, ss491491317, ss536992292, ss660095183, ss778697558, ss780706086, ss782920320, ss783380650, ss783883354, ss832175444, ss834156413, ss1067550287, ss1080002725, ss1352818075, ss1632669625, ss1675663658, ss1691716898, ss1691716899, ss1752154387, ss1752154388, ss1917893668, ss1935020705, ss1946388448, ss1959597393, ss2028290664, ss2095057500, ss2156687639, ss2370057282, ss2628638446, ss2633208611, ss2701146665, ss2710811758, ss2741065578, ss2749249442, ss2932978028, ss2985035015, ss3021616126, ss3627323169, ss3627323170, ss3631202938, ss3633091615, ss3633795966, ss3634597899, ss3634597900, ss3636288158, ss3637236269, ss3638075858, ss3640305226, ss3640305227, ss3644641571, ss3652015453, ss3652015454, ss3653806730 NC_000015.9:28197036:T= NC_000015.10:27951890:T= (self)
ss2205521927, ss3223213652 NC_000015.10:27951890:T= NC_000015.10:27951890:T= (self)
ss2420499, ss3252396, ss24189239, ss48296088, ss65725873, ss69171455, ss74906892, ss81586877, ss103224298, ss159730248, ss160462823, ss172924703 NT_026446.14:4632183:T= NC_000015.10:27951890:T= (self)
8161149, ss1691716899, ss2741065578 NC_000015.9:28197036:T>A NC_000015.10:27951890:T>A (self)
ss66176469, ss76236547, ss82705922, ss172920763, ss282192650, ss480300423, ss491696419, ss1695635172, ss1713477579, ss2635056506, ss3643060569 NC_000015.8:25870631:T>C NC_000015.10:27951890:T>C (self)
65865102, 36573533, 25914688, 66679554, 8161149, 1354167, 36573533, ss243120426, ss342398360, ss480311526, ss481067082, ss484948024, ss491078354, ss491491317, ss536992292, ss660095183, ss778697558, ss780706086, ss782920320, ss783380650, ss783883354, ss832175444, ss834156413, ss1067550287, ss1080002725, ss1352818075, ss1632669625, ss1675663658, ss1691716898, ss1752154387, ss1752154388, ss1917893668, ss1935020705, ss1946388448, ss1959597393, ss2028290664, ss2095057500, ss2156687639, ss2370057282, ss2628638446, ss2633208611, ss2701146665, ss2710811758, ss2741065578, ss2749249442, ss2932978028, ss2985035015, ss3021616126, ss3627323169, ss3627323170, ss3631202938, ss3633091615, ss3633795966, ss3634597899, ss3634597900, ss3636288158, ss3637236269, ss3638075858, ss3640305226, ss3640305227, ss3644641571, ss3652015453, ss3652015454, ss3653806730 NC_000015.9:28197036:T>C NC_000015.10:27951890:T>C (self)
RCV000245098.2, RCV000259507.1, ss2205521927, ss3223213652 NC_000015.10:27951890:T>C NC_000015.10:27951890:T>C (self)
ss2420499, ss3252396, ss24189239, ss48296088, ss65725873, ss69171455, ss74906892, ss81586877, ss103224298, ss159730248, ss160462823, ss172924703 NT_026446.14:4632183:T>C NC_000015.10:27951890:T>C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

16 citations for rs1800414
PMID Title Author Year Journal
12713581 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. Suzuki T et al. 2003 The Journal of investigative dermatology
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
18392143 Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects. Anno S et al. 2008 International journal of biological sciences
20158590 Predicting phenotype from genotype: normal pigmentation. Valenzuela RK et al. 2010 Journal of forensic sciences
20221248 Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. Edwards M et al. 2010 PLoS genetics
22065085 A global view of the OCA2-HERC2 region and pigmentation. Donnelly MP et al. 2012 Human genetics
23110848 Human pigmentation genes under environmental selection. Sturm RA et al. 2012 Genome biology
23139751 Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. Rodriguez-Flores JL et al. 2012 PloS one
24809478 Implications of the admixture process in skin color molecular assessment. Cerqueira CC 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
25809079 Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations. Eaton K et al. 2015 American journal of human biology
26744415 A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution. Yang Z et al. 2016 Molecular biology and evolution
27081560 Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations. Murray N et al. 2015 Human genome variation
27468418 Importance of nonsynonymous OCA2 variants in human eye color prediction. Andersen JD et al. 2016 Molecular genetics & genomic medicine
29109912 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. Rawofi L et al. 2017 PeerJ
30050061 Application of partial least squares in exploring the genome selection signatures between populations. Sun H et al. 2019 Heredity

Genomic regions, transcripts, and products
Top 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.

Software version is: 2.0.1.post58+e54ea20