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rs1057518867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518867(A;A)
Make rs1057518867(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51946381
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057518867
dbSNP (old)rs1057518867
ClinGenrs1057518867
ebirs1057518867
HLIrs1057518867
Exacrs1057518867
Gnomadrs1057518867
Varsomers1057518867
Maprs1057518867
PheGenIrs1057518867
Biobankrs1057518867
1000 genomesrs1057518867
hgdprs1057518867
ensemblrs1057518867
gopubmedrs1057518867
geneviewrs1057518867
scholarrs1057518867
googlers1057518867
pharmgkbrs1057518867
gwascentralrs1057518867
openSNPrs1057518867
23andMers1057518867
23andMe allrs1057518867
SNPshotrs1057518867
SNPdbers1057518867
MSV3drs1057518867
GWAS Ctlgrs1057518867
Max Magnitude0
ClinVar
Risk rs1057518867(A;A)
Alt rs1057518867(A;A)
Reference Rs1057518867(G;G)
Significance Probable-Pathogenic
Disease Hand tremor Kayser-Fleischer ring
Variation info
Gene ATP7B
CLNDBN Hand tremor Kayser-Fleischer ring
Reversed 1
HGVS NC_000013.10:g.52520517C>T
CLNSRC
CLNACC RCV000415306.1,