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rs558037268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 Carrier of a Wilson disease mutation
(TT;TT) 0 common in clinvar
Make rs558037268(-;-)
Make rs558037268(-;TT)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position51974695
GeneATP7B
is asnp
is mentioned by
dbSNPrs558037268
dbSNP (classic)rs558037268
ClinGenrs558037268
ebirs558037268
HLIrs558037268
Exacrs558037268
Gnomadrs558037268
Varsomers558037268
LitVarrs558037268
Maprs558037268
PheGenIrs558037268
Biobankrs558037268
1000 genomesrs558037268
hgdprs558037268
ensemblrs558037268
geneviewrs558037268
scholarrs558037268
googlers558037268
pharmgkbrs558037268
gwascentralrs558037268
openSNPrs558037268
23andMers558037268
SNPshotrs558037268
SNPdbers558037268
MSV3drs558037268
GWAS Ctlgrs558037268
Max Magnitude3
ClinVar
Risk rs558037268(-;-)
Alt rs558037268(-;-)
Reference Rs558037268(TT;TT)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52548831_52548832delTT
CLNSRC
CLNACC RCV000169375.1,