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rs755554442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs755554442(A;A)
Make rs755554442(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position51941186
GeneATP7B
is asnp
is mentioned by
dbSNPrs755554442
dbSNP (classic)rs755554442
ClinGenrs755554442
ebirs755554442
HLIrs755554442
Exacrs755554442
Gnomadrs755554442
Varsomers755554442
LitVarrs755554442
Maprs755554442
PheGenIrs755554442
Biobankrs755554442
1000 genomesrs755554442
hgdprs755554442
ensemblrs755554442
geneviewrs755554442
scholarrs755554442
googlers755554442
pharmgkbrs755554442
gwascentralrs755554442
openSNPrs755554442
23andMers755554442
SNPshotrs755554442
SNPdbers755554442
MSV3drs755554442
GWAS Ctlgrs755554442
Max Magnitude0
ClinVar
Risk rs755554442(A;A)
Alt rs755554442(A;A)
Reference Rs755554442(G;G)
Significance Probable-Pathogenic
Disease Wilson disease
Variation info
Gene ATP7B
CLNDBN Wilson disease
Reversed 0
HGVS NC_000013.10:g.52515322G>A
CLNSRC
CLNACC RCV000169188.1,