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rs121918170

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918170(A;G)
Make rs121918170(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27983383
GeneOCA2
is asnp
is mentioned by
dbSNPrs121918170
ebirs121918170
HLIrs121918170
Exacrs121918170
Varsomers121918170
Maprs121918170
PheGenIrs121918170
hapmaprs121918170
1000 genomesrs121918170
hgdprs121918170
ensemblrs121918170
gopubmedrs121918170
geneviewrs121918170
scholarrs121918170
googlers121918170
pharmgkbrs121918170
gwascentralrs121918170
openSNPrs121918170
23andMers121918170
23andMe allrs121918170
SNP Nexus

SNPshotrs121918170
SNPdbers121918170
MSV3drs121918170
GWAS Ctlgrs121918170
Max Magnitude0
OMIM611409
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918170(G;G)
Alt rs121918170(G;G)
Reference rs121918170(A;A)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28228529T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001012.4,