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rs766149114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a Wilson disease mutation
Make rs766149114(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51950271
GeneATP7B
is asnp
is mentioned by
dbSNPrs766149114
dbSNP (classic)rs766149114
ClinGenrs766149114
ebirs766149114
HLIrs766149114
Exacrs766149114
Gnomadrs766149114
Varsomers766149114
LitVarrs766149114
Maprs766149114
PheGenIrs766149114
Biobankrs766149114
1000 genomesrs766149114
hgdprs766149114
ensemblrs766149114
geneviewrs766149114
scholarrs766149114
googlers766149114
pharmgkbrs766149114
gwascentralrs766149114
openSNPrs766149114
23andMers766149114
SNPshotrs766149114
SNPdbers766149114
MSV3drs766149114
GWAS Ctlgrs766149114
Max Magnitude3
ClinVar
Risk rs766149114(G;G)
Alt rs766149114(G;G)
Reference Rs766149114(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52524407C>G
CLNSRC
CLNACC RCV000169063.1,