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rs121907996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121907996(A;A)
Make rs121907996(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51946438
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907996
ebirs121907996
HLIrs121907996
Exacrs121907996
Varsomers121907996
Maprs121907996
PheGenIrs121907996
hapmaprs121907996
1000 genomesrs121907996
hgdprs121907996
ensemblrs121907996
gopubmedrs121907996
geneviewrs121907996
scholarrs121907996
googlers121907996
pharmgkbrs121907996
gwascentralrs121907996
openSNPrs121907996
23andMers121907996
23andMe allrs121907996
SNP Nexus

SNPshotrs121907996
SNPdbers121907996
MSV3drs121907996
GWAS Ctlgrs121907996
Max Magnitude0
OMIM606882
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121907996(A;A)
Alt rs121907996(A;A)
Reference rs121907996(G;G)
Significance Pathogenic
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52520574C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004064.2,