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rs1057516940

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516940(-;A)
Make rs1057516940(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51964920
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516940
dbSNP (old)rs1057516940
ClinGenrs1057516940
ebirs1057516940
HLIrs1057516940
Exacrs1057516940
Gnomadrs1057516940
Varsomers1057516940
Maprs1057516940
PheGenIrs1057516940
Biobankrs1057516940
1000 genomesrs1057516940
hgdprs1057516940
ensemblrs1057516940
gopubmedrs1057516940
geneviewrs1057516940
scholarrs1057516940
googlers1057516940
pharmgkbrs1057516940
gwascentralrs1057516940
openSNPrs1057516940
23andMers1057516940
23andMe allrs1057516940
SNPshotrs1057516940
SNPdbers1057516940
MSV3drs1057516940
GWAS Ctlgrs1057516940
Max Magnitude0
ClinVar
Risk rs1057516940(A;A)
Alt rs1057516940(A;A)
Reference Rs1057516940(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52539057dupT
CLNSRC
CLNACC RCV000411545.1,