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rs786204584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204584(A;G)
Make rs786204584(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51942556
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204584
dbSNP (classic)rs786204584
ClinGenrs786204584
ebirs786204584
HLIrs786204584
Exacrs786204584
Gnomadrs786204584
Varsomers786204584
LitVarrs786204584
Maprs786204584
PheGenIrs786204584
Biobankrs786204584
1000 genomesrs786204584
hgdprs786204584
ensemblrs786204584
geneviewrs786204584
scholarrs786204584
googlers786204584
pharmgkbrs786204584
gwascentralrs786204584
openSNPrs786204584
23andMers786204584
SNPshotrs786204584
SNPdbers786204584
MSV3drs786204584
GWAS Ctlgrs786204584
Max Magnitude0
ClinVar
Risk rs786204584(G;G)
Alt rs786204584(G;G)
Reference Rs786204584(A;A)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52516692T>C
CLNSRC
CLNACC RCV000169327.1,