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rs1057516561

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516561(-;C)
Make rs1057516561(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51975045
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516561
dbSNP (old)rs1057516561
ClinGenrs1057516561
ebirs1057516561
HLIrs1057516561
Exacrs1057516561
Gnomadrs1057516561
Varsomers1057516561
Maprs1057516561
PheGenIrs1057516561
Biobankrs1057516561
1000 genomesrs1057516561
hgdprs1057516561
ensemblrs1057516561
gopubmedrs1057516561
geneviewrs1057516561
scholarrs1057516561
googlers1057516561
pharmgkbrs1057516561
gwascentralrs1057516561
openSNPrs1057516561
23andMers1057516561
23andMe allrs1057516561
SNPshotrs1057516561
SNPdbers1057516561
MSV3drs1057516561
GWAS Ctlgrs1057516561
Max Magnitude0
ClinVar
Risk rs1057516561(C;C)
Alt rs1057516561(C;C)
Reference Rs1057516561(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52549182dupG
CLNSRC
CLNACC RCV000410969.1,