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rs121908008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 sulfite oxidase deficiency (likely)
(A;C) 1.5 carrier of a sulfite oxidase deficiency allele
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position56004183
GeneSUOX
is asnp
is mentioned by
dbSNPrs121908008
ebirs121908008
HLIrs121908008
Exacrs121908008
Varsomers121908008
Maprs121908008
PheGenIrs121908008
hapmaprs121908008
1000 genomesrs121908008
hgdprs121908008
ensemblrs121908008
gopubmedrs121908008
geneviewrs121908008
scholarrs121908008
googlers121908008
pharmgkbrs121908008
gwascentralrs121908008
openSNPrs121908008
23andMers121908008
23andMe allrs121908008
SNP Nexus

SNPshotrs121908008
SNPdbers121908008
MSV3drs121908008
GWAS Ctlgrs121908008
Max Magnitude5
See: OMIM 606887.0002
OMIM606887
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908008(A;A)
Alt rs121908008(A;A)
Reference rs121908008(C;C)
Significance Pathogenic
Disease Sulfite oxidase deficiency
Variation info
Gene SUOX
CLNDBN Sulfite oxidase deficiency, isolated
Reversed 0
HGVS NC_000012.11:g.56397967C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004025.2,