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rs1057517351

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517351(G;T)
Make rs1057517351(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51975169
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057517351
dbSNP (old)rs1057517351
ClinGenrs1057517351
ebirs1057517351
HLIrs1057517351
Exacrs1057517351
Gnomadrs1057517351
Varsomers1057517351
Maprs1057517351
PheGenIrs1057517351
Biobankrs1057517351
1000 genomesrs1057517351
hgdprs1057517351
ensemblrs1057517351
gopubmedrs1057517351
geneviewrs1057517351
scholarrs1057517351
googlers1057517351
pharmgkbrs1057517351
gwascentralrs1057517351
openSNPrs1057517351
23andMers1057517351
23andMe allrs1057517351
SNPshotrs1057517351
SNPdbers1057517351
MSV3drs1057517351
GWAS Ctlgrs1057517351
Max Magnitude0
ClinVar
Risk rs1057517351(T;T)
Alt rs1057517351(T;T)
Reference Rs1057517351(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52549305C>A
CLNSRC
CLNACC RCV000411235.1,