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rs794729211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794729211(A;A)
Make rs794729211(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position56003721
GeneSUOX
is asnp
is mentioned by
dbSNPrs794729211
dbSNP (classic)rs794729211
ClinGenrs794729211
ebirs794729211
HLIrs794729211
Exacrs794729211
Gnomadrs794729211
Varsomers794729211
LitVarrs794729211
Maprs794729211
PheGenIrs794729211
Biobankrs794729211
1000 genomesrs794729211
hgdprs794729211
ensemblrs794729211
geneviewrs794729211
scholarrs794729211
googlers794729211
pharmgkbrs794729211
gwascentralrs794729211
openSNPrs794729211
23andMers794729211
SNPshotrs794729211
SNPdbers794729211
MSV3drs794729211
GWAS Ctlgrs794729211
Max Magnitude0
ClinVar
Risk rs794729211(A;A)
Alt rs794729211(A;A)
Reference Rs794729211(T;T)
Significance Probable-Pathogenic
Disease Sulfite oxidase deficiency
Variation info
Gene SUOX
CLNDBN Sulfite oxidase deficiency
Reversed 0
HGVS NC_000012.11:g.56397505T>A
CLNSRC
CLNACC RCV000184031.1,