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rs184388696

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 Carrier of a Wilson disease mutation
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Wilson disease mutation
Make rs184388696(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51941080
GeneATP7B
is asnp
is mentioned by
dbSNPrs184388696
dbSNP (classic)rs184388696
ClinGenrs184388696
ebirs184388696
HLIrs184388696
Exacrs184388696
Gnomadrs184388696
Varsomers184388696
LitVarrs184388696
Maprs184388696
PheGenIrs184388696
Biobankrs184388696
1000 genomesrs184388696
hgdprs184388696
ensemblrs184388696
geneviewrs184388696
scholarrs184388696
googlers184388696
pharmgkbrs184388696
gwascentralrs184388696
openSNPrs184388696
23andMers184388696
SNPshotrs184388696
SNPdbers184388696
MSV3drs184388696
GWAS Ctlgrs184388696
Max Magnitude3
ClinVar
Risk rs184388696(T;T)
Alt rs184388696(T;T)
Reference Rs184388696(C;C)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52515216C>T
CLNSRC
CLNACC RCV000169452.1,