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rs60431989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Wilson disease mutation
Make rs60431989(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position51941194
GeneATP7B
is asnp
is mentioned by
dbSNPrs60431989
dbSNP (classic)rs60431989
ClinGenrs60431989
ebirs60431989
HLIrs60431989
Exacrs60431989
Gnomadrs60431989
Varsomers60431989
LitVarrs60431989
Maprs60431989
PheGenIrs60431989
Biobankrs60431989
1000 genomesrs60431989
hgdprs60431989
ensemblrs60431989
geneviewrs60431989
scholarrs60431989
googlers60431989
pharmgkbrs60431989
gwascentralrs60431989
openSNPrs60431989
23andMers60431989
SNPshotrs60431989
SNPdbers60431989
MSV3drs60431989
GWAS Ctlgrs60431989
Max Magnitude3


ClinVar
Risk rs60431989(G;G)
Alt rs60431989(G;G)
Reference Rs60431989(A;A)
Significance Other
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52515330A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004067.3, RCV000023582.5,