Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908007

From SNPedia

sulfite oxidase deficiency
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 sulfite oxidase deficiency
(A;G) 1.5 carrier of a sulfite oxidase deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position56004039
GeneSUOX
is asnp
is mentioned by
dbSNPrs121908007
ebirs121908007
HLIrs121908007
Exacrs121908007
Varsomers121908007
Maprs121908007
PheGenIrs121908007
hapmaprs121908007
1000 genomesrs121908007
hgdprs121908007
ensemblrs121908007
gopubmedrs121908007
geneviewrs121908007
scholarrs121908007
googlers121908007
pharmgkbrs121908007
gwascentralrs121908007
openSNPrs121908007
23andMers121908007
23andMe allrs121908007
SNP Nexus

SNPshotrs121908007
SNPdbers121908007
MSV3drs121908007
GWAS Ctlgrs121908007
Max Magnitude5
rs121908007, also known as R160Q, is a SNP in the sulfite oxidase SUOX gene.

A report published in 1998 concluded that a patient suffering from sulfite oxidase deficiency inherited two copies of the rs121908007(A) allele. [PMID 9600976OA-icon.png]

See also: OMIM 606887.0001

OMIM606887
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908007(A;A)
Alt rs121908007(A;A)
Reference rs121908007(G;G)
Significance Pathogenic
Disease Sulfite oxidase deficiency
Variation info
Gene SUOX
CLNDBN Sulfite oxidase deficiency, isolated
Reversed 0
HGVS NC_000012.11:g.56397823G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004024.2,