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rs202085145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;T) 3.9 Carrier of sulfite oxidase deficiency mutation; possible effects?
(T;T) 8 Sulfite oxidase deficiency (predicted)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position56002720
GeneSUOX
is asnp
is mentioned by
dbSNPrs202085145
dbSNP (old)rs202085145
ClinGenrs202085145
ebirs202085145
HLIrs202085145
Exacrs202085145
Gnomadrs202085145
Varsomers202085145
Maprs202085145
PheGenIrs202085145
Biobankrs202085145
1000 genomesrs202085145
hgdprs202085145
ensemblrs202085145
gopubmedrs202085145
geneviewrs202085145
scholarrs202085145
googlers202085145
pharmgkbrs202085145
gwascentralrs202085145
openSNPrs202085145
23andMers202085145
23andMe allrs202085145
SNPshotrs202085145
SNPdbers202085145
MSV3drs202085145
GWAS Ctlgrs202085145
Max Magnitude8

aka c.228G>T, p.Arg76Ser, R76S

ClinVar indicated "uncertain significance" for sulfite oxidase deficiency, also known as Sulfocysteinuria, listed in OMIM as a recessively inherited condition; in 10.1126/science.aal4043, this variant appears to have some effect even if inherited in only one copy (see paper for discussion).