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rs398123137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123137(A;A)
Make rs398123137(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position51974305
GeneATP7B
is asnp
is mentioned by
dbSNPrs398123137
dbSNP (classic)rs398123137
ClinGenrs398123137
ebirs398123137
HLIrs398123137
Exacrs398123137
Gnomadrs398123137
Varsomers398123137
LitVarrs398123137
Maprs398123137
PheGenIrs398123137
Biobankrs398123137
1000 genomesrs398123137
hgdprs398123137
ensemblrs398123137
geneviewrs398123137
scholarrs398123137
googlers398123137
pharmgkbrs398123137
gwascentralrs398123137
openSNPrs398123137
23andMers398123137
SNPshotrs398123137
SNPdbers398123137
MSV3drs398123137
GWAS Ctlgrs398123137
Max Magnitude0
ClinVar
Risk rs398123137(A;A)
Alt rs398123137(A;A)
Reference Rs398123137(T;T)
Significance Pathogenic
Disease not provided Wilson disease
Variation info
Gene ATP7B
CLNDBN not provided Wilson disease
Reversed 1
HGVS NC_000013.10:g.52548441A>T
CLNSRC HGMD
CLNACC RCV000078056.3, RCV000175511.1,