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rs1057516228

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516228(-;-)
Make rs1057516228(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51937349
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516228
dbSNP (old)rs1057516228
ClinGenrs1057516228
ebirs1057516228
HLIrs1057516228
Exacrs1057516228
Gnomadrs1057516228
Varsomers1057516228
Maprs1057516228
PheGenIrs1057516228
Biobankrs1057516228
1000 genomesrs1057516228
hgdprs1057516228
ensemblrs1057516228
gopubmedrs1057516228
geneviewrs1057516228
scholarrs1057516228
googlers1057516228
pharmgkbrs1057516228
gwascentralrs1057516228
openSNPrs1057516228
23andMers1057516228
23andMe allrs1057516228
SNPshotrs1057516228
SNPdbers1057516228
MSV3drs1057516228
GWAS Ctlgrs1057516228
Max Magnitude0
ClinVar
Risk rs1057516228(-;-)
Alt rs1057516228(-;-)
Reference Rs1057516228(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52511485delC
CLNSRC
CLNACC RCV000412369.1,