rs202085145
From SNPedia
Orientation | plus |
Stabilized | plus |
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) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 12 |
Position | 56002720 |
Gene | SUOX |
is a | snp |
is | mentioned by |
dbSNP | rs202085145 |
dbSNP (classic) | rs202085145 |
ClinGen | rs202085145 |
ebi | rs202085145 |
HLI | rs202085145 |
Exac | rs202085145 |
Gnomad | rs202085145 |
Varsome | rs202085145 |
LitVar | rs202085145 |
Map | rs202085145 |
PheGenI | rs202085145 |
Biobank | rs202085145 |
1000 genomes | rs202085145 |
hgdp | rs202085145 |
ensembl | rs202085145 |
geneview | rs202085145 |
scholar | rs202085145 |
rs202085145 | |
pharmgkb | rs202085145 |
gwascentral | rs202085145 |
openSNP | rs202085145 |
23andMe | rs202085145 |
SNPshot | rs202085145 |
SNPdbe | rs202085145 |
MSV3d | rs202085145 |
GWAS Ctlg | rs202085145 |
Max Magnitude | 8 |
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).