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rs121907993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121907993(C;G)
Make rs121907993(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position51949772
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907993
ebirs121907993
HLIrs121907993
Exacrs121907993
Varsomers121907993
Maprs121907993
PheGenIrs121907993
hapmaprs121907993
1000 genomesrs121907993
hgdprs121907993
ensemblrs121907993
gopubmedrs121907993
geneviewrs121907993
scholarrs121907993
googlers121907993
pharmgkbrs121907993
gwascentralrs121907993
openSNPrs121907993
23andMers121907993
23andMe allrs121907993
SNP Nexus

SNPshotrs121907993
SNPdbers121907993
MSV3drs121907993
GWAS Ctlgrs121907993
GMAF0.0
Max Magnitude0
OMIM606882
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121907993(G,T;G,T)
Alt rs121907993(G,T;G,T)
Reference rs121907993(C;C)
Significance Other
Disease Wilson's disease
Variation info
Gene ATP7B
CLNDBN Wilson's disease
Reversed 1
HGVS NC_000013.10:g.52523908G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004061.4,