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rs387906240

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906240(G;T)
Make rs387906240(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position27955157
GeneOCA2
is asnp
is mentioned by
dbSNPrs387906240
ebirs387906240
HLIrs387906240
Exacrs387906240
Varsomers387906240
Maprs387906240
PheGenIrs387906240
hapmaprs387906240
1000 genomesrs387906240
hgdprs387906240
ensemblrs387906240
gopubmedrs387906240
geneviewrs387906240
scholarrs387906240
googlers387906240
pharmgkbrs387906240
gwascentralrs387906240
openSNPrs387906240
23andMers387906240
23andMe allrs387906240
SNP Nexus

SNPshotrs387906240
SNPdbers387906240
MSV3drs387906240
GWAS Ctlgrs387906240
Max Magnitude0
ClinVar
Risk rs387906240(T;T)
Alt rs387906240(T;T)
Reference rs387906240(G;G)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28200303C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001004.3,