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rs786204658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204658(C;T)
Make rs786204658(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51939152
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204658
dbSNP (classic)rs786204658
ClinGenrs786204658
ebirs786204658
HLIrs786204658
Exacrs786204658
Gnomadrs786204658
Varsomers786204658
LitVarrs786204658
Maprs786204658
PheGenIrs786204658
Biobankrs786204658
1000 genomesrs786204658
hgdprs786204658
ensemblrs786204658
geneviewrs786204658
scholarrs786204658
googlers786204658
pharmgkbrs786204658
gwascentralrs786204658
openSNPrs786204658
23andMers786204658
SNPshotrs786204658
SNPdbers786204658
MSV3drs786204658
GWAS Ctlgrs786204658
Max Magnitude0
ClinVar
Risk rs786204658(T;T)
Alt rs786204658(T;T)
Reference Rs786204658(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52513288G>A
CLNSRC
CLNACC RCV000169453.1,