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rs1057516740

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516740(-;-)
Make rs1057516740(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51937579
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516740
dbSNP (old)rs1057516740
ClinGenrs1057516740
ebirs1057516740
HLIrs1057516740
Exacrs1057516740
Gnomadrs1057516740
Varsomers1057516740
Maprs1057516740
PheGenIrs1057516740
Biobankrs1057516740
1000 genomesrs1057516740
hgdprs1057516740
ensemblrs1057516740
gopubmedrs1057516740
geneviewrs1057516740
scholarrs1057516740
googlers1057516740
pharmgkbrs1057516740
gwascentralrs1057516740
openSNPrs1057516740
23andMers1057516740
23andMe allrs1057516740
SNP Nexus

SNPshotrs1057516740
SNPdbers1057516740
MSV3drs1057516740
GWAS Ctlgrs1057516740
Max Magnitude0
ClinVar
Risk rs1057516740(-;-)
Alt rs1057516740(-;-)
Reference Rs1057516740(A;A)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52511715delT
CLNSRC
CLNACC RCV000412326.1,