Rs121918166

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Orientationminus
is asnp
is mentioned by
dbSNPrs121918166
PheGenIrs121918166
nextbiors121918166
hapmaprs121918166
1000 genomesrs121918166
hgdprs121918166
ensemblrs121918166
gopubmedrs121918166
geneviewrs121918166
scholarrs121918166
googlers121918166
pharmgkbrs121918166
gwascentralrs121918166
openSNPrs121918166
23andMers121918166
23andMe allrs121918166
SNP Nexus

SNPshotrs121918166
SNPdbers121918166
MSV3drs121918166
GeneOCA2
Merged fromRs28934272
Chromosome15
Orientationminus
GMAF0.001837
Position28230247
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918166(A;A)
Make rs121918166(A;G)
OMIM611409
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918166(A;A)
Alt rs121918166(A;A)
Reference rs121918166(G;G)
Significance 5
Disease Tyrosinase-positive oculocutaneous albinism
ClinVar info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
CLNHGVS NC_000015.9:g.28230247C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001006.1