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rs1057516425

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516425(A;A)
Make rs1057516425(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51950006
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516425
dbSNP (old)rs1057516425
ClinGenrs1057516425
ebirs1057516425
HLIrs1057516425
Exacrs1057516425
Gnomadrs1057516425
Varsomers1057516425
Maprs1057516425
PheGenIrs1057516425
Biobankrs1057516425
1000 genomesrs1057516425
hgdprs1057516425
ensemblrs1057516425
gopubmedrs1057516425
geneviewrs1057516425
scholarrs1057516425
googlers1057516425
pharmgkbrs1057516425
gwascentralrs1057516425
openSNPrs1057516425
23andMers1057516425
23andMe allrs1057516425
SNPshotrs1057516425
SNPdbers1057516425
MSV3drs1057516425
GWAS Ctlgrs1057516425
Max Magnitude0
ClinVar
Risk rs1057516425(A;A)
Alt rs1057516425(A;A)
Reference Rs1057516425(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52524142C>T
CLNSRC
CLNACC RCV000411590.1,