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

rs1057516643

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516643(-;-)
Make rs1057516643(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51949717
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516643
dbSNP (old)rs1057516643
ClinGenrs1057516643
ebirs1057516643
HLIrs1057516643
Exacrs1057516643
Gnomadrs1057516643
Varsomers1057516643
Maprs1057516643
PheGenIrs1057516643
Biobankrs1057516643
1000 genomesrs1057516643
hgdprs1057516643
ensemblrs1057516643
gopubmedrs1057516643
geneviewrs1057516643
scholarrs1057516643
googlers1057516643
pharmgkbrs1057516643
gwascentralrs1057516643
openSNPrs1057516643
23andMers1057516643
23andMe allrs1057516643
SNP Nexus

SNPshotrs1057516643
SNPdbers1057516643
MSV3drs1057516643
GWAS Ctlgrs1057516643
Max Magnitude0
ClinVar
Risk rs1057516643(-;-)
Alt rs1057516643(-;-)
Reference Rs1057516643(T;T)
Significance Pathogenic
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 1
HGVS NC_000013.10:g.52523853delA
CLNSRC
CLNACC RCV000409795.1, RCV000482624.1,