Rs121918168

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918168(C;T)
Make rs121918168(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position28014819
GeneOCA2
is asnp
is mentioned by
dbSNPrs121918168
Exacrs121918168
PheGenIrs121918168
nextbiors121918168
hapmaprs121918168
1000 genomesrs121918168
hgdprs121918168
ensemblrs121918168
gopubmedrs121918168
geneviewrs121918168
scholarrs121918168
googlers121918168
pharmgkbrs121918168
gwascentralrs121918168
openSNPrs121918168
23andMers121918168
23andMe allrs121918168
SNP Nexus

SNPshotrs121918168
SNPdbers121918168
MSV3drs121918168
Max Magnitude0
OMIM611409
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918168(T;T)
Alt rs121918168(T;T)
Reference rs121918168(C;C)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28259965G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001009.1,