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rs1057516732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516732(-;-)
Make rs1057516732(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51957515
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516732
dbSNP (old)rs1057516732
ClinGenrs1057516732
ebirs1057516732
HLIrs1057516732
Exacrs1057516732
Gnomadrs1057516732
Varsomers1057516732
Maprs1057516732
PheGenIrs1057516732
Biobankrs1057516732
1000 genomesrs1057516732
hgdprs1057516732
ensemblrs1057516732
gopubmedrs1057516732
geneviewrs1057516732
scholarrs1057516732
googlers1057516732
pharmgkbrs1057516732
gwascentralrs1057516732
openSNPrs1057516732
23andMers1057516732
23andMe allrs1057516732
SNPshotrs1057516732
SNPdbers1057516732
MSV3drs1057516732
GWAS Ctlgrs1057516732
Max Magnitude0
ClinVar
Risk rs1057516732(-;-)
Alt rs1057516732(-;-)
Reference Rs1057516732(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52531651delC
CLNSRC
CLNACC RCV000411401.1,