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rs191312027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs191312027(C;T)
Make rs191312027(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position51950132
GeneATP7B
is asnp
is mentioned by
dbSNPrs191312027
dbSNP (classic)rs191312027
ClinGenrs191312027
ebirs191312027
HLIrs191312027
Exacrs191312027
Gnomadrs191312027
Varsomers191312027
LitVarrs191312027
Maprs191312027
PheGenIrs191312027
Biobankrs191312027
1000 genomesrs191312027
hgdprs191312027
ensemblrs191312027
geneviewrs191312027
scholarrs191312027
googlers191312027
pharmgkbrs191312027
gwascentralrs191312027
openSNPrs191312027
23andMers191312027
SNPshotrs191312027
SNPdbers191312027
MSV3drs191312027
GWAS Ctlgrs191312027
Max Magnitude0
ClinVar
Risk rs191312027(A;A) rs191312027(T;T)
Alt rs191312027(A;A) rs191312027(T;T)
Reference Rs191312027(C;C)
Significance Pathogenic
Disease Wilson disease not provided
Variation info
Gene ATP7B
CLNDBN Wilson disease not provided
Reversed 0
HGVS NC_000013.10:g.52524268C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000145263.2, RCV000413599.1,