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rs786204764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204764(-;-)
Make rs786204764(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51960234
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204764
dbSNP (classic)rs786204764
ClinGenrs786204764
ebirs786204764
HLIrs786204764
Exacrs786204764
Gnomadrs786204764
Varsomers786204764
LitVarrs786204764
Maprs786204764
PheGenIrs786204764
Biobankrs786204764
1000 genomesrs786204764
hgdprs786204764
ensemblrs786204764
geneviewrs786204764
scholarrs786204764
googlers786204764
pharmgkbrs786204764
gwascentralrs786204764
openSNPrs786204764
23andMers786204764
SNPshotrs786204764
SNPdbers786204764
MSV3drs786204764
GWAS Ctlgrs786204764
Max Magnitude0
ClinVar
Risk rs786204764(-;-)
Alt rs786204764(-;-)
Reference Rs786204764(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52534370delG
CLNSRC
CLNACC RCV000169628.1,