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rs1057517024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517024(A;G)
Make rs1057517024(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51965035
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517024
dbSNP (classic)rs1057517024
ClinGenrs1057517024
ebirs1057517024
HLIrs1057517024
Exacrs1057517024
Gnomadrs1057517024
Varsomers1057517024
LitVarrs1057517024
Maprs1057517024
PheGenIrs1057517024
Biobankrs1057517024
1000 genomesrs1057517024
hgdprs1057517024
ensemblrs1057517024
geneviewrs1057517024
scholarrs1057517024
googlers1057517024
pharmgkbrs1057517024
gwascentralrs1057517024
openSNPrs1057517024
23andMers1057517024
23andMe allrs1057517024
SNPshotrs1057517024
SNPdbers1057517024
MSV3drs1057517024
GWAS Ctlgrs1057517024
Max Magnitude0
ClinVar
Risk rs1057517024(G;G)
Alt rs1057517024(G;G)
Reference Rs1057517024(A;A)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52539171T>C
CLNSRC
CLNACC RCV000409239.1,