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rs121907996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a Wilson disease mutation
(G;G) 0 common in clinvar


Make rs121907996(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position51946438
GeneATP7B
is asnp
is mentioned by
dbSNPrs121907996
dbSNP (classic)rs121907996
ClinGenrs121907996
ebirs121907996
HLIrs121907996
Exacrs121907996
Gnomadrs121907996
Varsomers121907996
LitVarrs121907996
Maprs121907996
PheGenIrs121907996
Biobankrs121907996
1000 genomesrs121907996
hgdprs121907996
ensemblrs121907996
geneviewrs121907996
scholarrs121907996
googlers121907996
pharmgkbrs121907996
gwascentralrs121907996
openSNPrs121907996
23andMers121907996
23andMe allrs121907996
SNPshotrs121907996
SNPdbers121907996
MSV3drs121907996
GWAS Ctlgrs121907996
Max Magnitude3

aka c.2906G>A (p.Arg969Gln or R969Q)

OMIM606882
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121907996(A;A)
Alt rs121907996(A;A)
Reference Rs121907996(G;G)
Significance Pathogenic
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 1
HGVS NC_000013.10:g.52520574C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004064.2, RCV000270891.1,