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rs1057516516

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516516(A;T)
Make rs1057516516(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51975117
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516516
dbSNP (old)rs1057516516
ClinGenrs1057516516
ebirs1057516516
HLIrs1057516516
Exacrs1057516516
Gnomadrs1057516516
Varsomers1057516516
Maprs1057516516
PheGenIrs1057516516
Biobankrs1057516516
1000 genomesrs1057516516
hgdprs1057516516
ensemblrs1057516516
gopubmedrs1057516516
geneviewrs1057516516
scholarrs1057516516
googlers1057516516
pharmgkbrs1057516516
gwascentralrs1057516516
openSNPrs1057516516
23andMers1057516516
23andMe allrs1057516516
SNPshotrs1057516516
SNPdbers1057516516
MSV3drs1057516516
GWAS Ctlgrs1057516516
Max Magnitude0
ClinVar
Risk rs1057516516(T;T)
Alt rs1057516516(T;T)
Reference Rs1057516516(A;A)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52549253T>A
CLNSRC
CLNACC RCV000412018.1,