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rs181250704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs181250704(A;A)
Make rs181250704(A;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position51935019
GeneATP7B
is asnp
is mentioned by
dbSNPrs181250704
dbSNP (classic)rs181250704
ClinGenrs181250704
ebirs181250704
HLIrs181250704
Exacrs181250704
Gnomadrs181250704
Varsomers181250704
LitVarrs181250704
Maprs181250704
PheGenIrs181250704
Biobankrs181250704
1000 genomesrs181250704
hgdprs181250704
ensemblrs181250704
geneviewrs181250704
scholarrs181250704
googlers181250704
pharmgkbrs181250704
gwascentralrs181250704
openSNPrs181250704
23andMers181250704
SNPshotrs181250704
SNPdbers181250704
MSV3drs181250704
GWAS Ctlgrs181250704
Max Magnitude0
ClinVar
Risk rs181250704(A;A)
Alt rs181250704(A;A)
Reference Rs181250704(G;G)
Significance Probable-Pathogenic
Disease Wilson disease not specified
Variation info
Gene ATP7B
CLNDBN Wilson disease not specified
Reversed 0
HGVS NC_000013.10:g.52509155G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000145282.1, RCV000309770.2,