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rs763819379

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs763819379(C;C)
Make rs763819379(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27983421
GeneOCA2
is asnp
is mentioned by
dbSNPrs763819379
ebirs763819379
HLIrs763819379
Exacrs763819379
Varsomers763819379
Maprs763819379
PheGenIrs763819379
hapmaprs763819379
1000 genomesrs763819379
hgdprs763819379
ensemblrs763819379
gopubmedrs763819379
geneviewrs763819379
scholarrs763819379
googlers763819379
pharmgkbrs763819379
gwascentralrs763819379
openSNPrs763819379
23andMers763819379
23andMe allrs763819379
SNP Nexus

SNPshotrs763819379
SNPdbers763819379
MSV3drs763819379
GWAS Ctlgrs763819379
Max Magnitude0
ClinVar
Risk rs763819379(C;C)
Alt rs763819379(C;C)
Reference rs763819379(T;T)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 0
HGVS NC_000015.9:g.28228567T>C
CLNSRC
CLNACC RCV000192364.1,