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rs786204570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786204570(-;C)
Make rs786204570(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51974441
GeneATP7B
is asnp
is mentioned by
dbSNPrs786204570
dbSNP (classic)rs786204570
ClinGenrs786204570
ebirs786204570
HLIrs786204570
Exacrs786204570
Gnomadrs786204570
Varsomers786204570
LitVarrs786204570
Maprs786204570
PheGenIrs786204570
Biobankrs786204570
1000 genomesrs786204570
hgdprs786204570
ensemblrs786204570
geneviewrs786204570
scholarrs786204570
googlers786204570
pharmgkbrs786204570
gwascentralrs786204570
openSNPrs786204570
23andMers786204570
SNPshotrs786204570
SNPdbers786204570
MSV3drs786204570
GWAS Ctlgrs786204570
Max Magnitude0
ClinVar
Risk rs786204570(C;C)
Alt rs786204570(C;C)
Reference Rs786204570(-;-)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 1
HGVS NC_000013.10:g.52548578dupG
CLNSRC
CLNACC RCV000169312.1,