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rs1057516479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516479(C;T)
Make rs1057516479(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51941108
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516479
dbSNP (classic)rs1057516479
ClinGenrs1057516479
ebirs1057516479
HLIrs1057516479
Exacrs1057516479
Gnomadrs1057516479
Varsomers1057516479
LitVarrs1057516479
Maprs1057516479
PheGenIrs1057516479
Biobankrs1057516479
1000 genomesrs1057516479
hgdprs1057516479
ensemblrs1057516479
geneviewrs1057516479
scholarrs1057516479
googlers1057516479
pharmgkbrs1057516479
gwascentralrs1057516479
openSNPrs1057516479
23andMers1057516479
23andMe allrs1057516479
SNPshotrs1057516479
SNPdbers1057516479
MSV3drs1057516479
GWAS Ctlgrs1057516479
Max Magnitude0
ClinVar
Risk rs1057516479(T;T)
Alt rs1057516479(T;T)
Reference Rs1057516479(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52515244G>A
CLNSRC
CLNACC RCV000412086.1,