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rs1057516893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516893(-;-)
Make rs1057516893(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51965025
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516893
dbSNP (classic)rs1057516893
ClinGenrs1057516893
ebirs1057516893
HLIrs1057516893
Exacrs1057516893
Gnomadrs1057516893
Varsomers1057516893
LitVarrs1057516893
Maprs1057516893
PheGenIrs1057516893
Biobankrs1057516893
1000 genomesrs1057516893
hgdprs1057516893
ensemblrs1057516893
geneviewrs1057516893
scholarrs1057516893
googlers1057516893
pharmgkbrs1057516893
gwascentralrs1057516893
openSNPrs1057516893
23andMers1057516893
23andMe allrs1057516893
SNPshotrs1057516893
SNPdbers1057516893
MSV3drs1057516893
GWAS Ctlgrs1057516893
Max Magnitude0
ClinVar
Risk rs1057516893(-;-)
Alt rs1057516893(-;-)
Reference Rs1057516893(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52539161delC
CLNSRC
CLNACC RCV000410735.1,