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rs777362050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 Carrier of a Wilson disease mutation
(T;T) 0 common in clinvar


Make rs777362050(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51950334
GeneATP7B
is asnp
is mentioned by
dbSNPrs777362050
dbSNP (classic)rs777362050
ClinGenrs777362050
ebirs777362050
HLIrs777362050
Exacrs777362050
Gnomadrs777362050
Varsomers777362050
LitVarrs777362050
Maprs777362050
PheGenIrs777362050
Biobankrs777362050
1000 genomesrs777362050
hgdprs777362050
ensemblrs777362050
geneviewrs777362050
scholarrs777362050
googlers777362050
pharmgkbrs777362050
gwascentralrs777362050
openSNPrs777362050
23andMers777362050
SNPshotrs777362050
SNPdbers777362050
MSV3drs777362050
GWAS Ctlgrs777362050
Max Magnitude3
ClinVar
Risk rs777362050(-;-)
Alt rs777362050(-;-)
Reference Rs777362050(T;T)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52524470delT
CLNSRC
CLNACC RCV000169035.1,