Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517310(G;T)
Make rs1057517310(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51949710
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517310
dbSNP (classic)rs1057517310
ClinGenrs1057517310
ebirs1057517310
HLIrs1057517310
Exacrs1057517310
Gnomadrs1057517310
Varsomers1057517310
LitVarrs1057517310
Maprs1057517310
PheGenIrs1057517310
Biobankrs1057517310
1000 genomesrs1057517310
hgdprs1057517310
ensemblrs1057517310
geneviewrs1057517310
scholarrs1057517310
googlers1057517310
pharmgkbrs1057517310
gwascentralrs1057517310
openSNPrs1057517310
23andMers1057517310
23andMe allrs1057517310
SNPshotrs1057517310
SNPdbers1057517310
MSV3drs1057517310
GWAS Ctlgrs1057517310
Max Magnitude0
ClinVar
Risk rs1057517310(T;T)
Alt rs1057517310(T;T)
Reference Rs1057517310(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52523846C>A
CLNSRC
CLNACC RCV000410917.1,