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rs1057516305

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516305(G;T)
Make rs1057516305(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position51970663
GeneATP7B
is asnp
is mentioned by
dbSNPrs1057516305
dbSNP (old)rs1057516305
ClinGenrs1057516305
ebirs1057516305
HLIrs1057516305
Exacrs1057516305
Gnomadrs1057516305
Varsomers1057516305
Maprs1057516305
PheGenIrs1057516305
Biobankrs1057516305
1000 genomesrs1057516305
hgdprs1057516305
ensemblrs1057516305
gopubmedrs1057516305
geneviewrs1057516305
scholarrs1057516305
googlers1057516305
pharmgkbrs1057516305
gwascentralrs1057516305
openSNPrs1057516305
23andMers1057516305
23andMe allrs1057516305
SNPshotrs1057516305
SNPdbers1057516305
MSV3drs1057516305
GWAS Ctlgrs1057516305
Max Magnitude0
ClinVar
Risk rs1057516305(T;T)
Alt rs1057516305(T;T)
Reference Rs1057516305(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52544799C>A
CLNSRC
CLNACC RCV000409337.1,