rs74575103
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 2 | Carrier of a G6PD variant likely to benign |
(T;T) | 2 | Probably benign; slight chance of G6PD deficiency |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 154533586 |
Gene | G6PD |
is a | snp |
is | mentioned by |
dbSNP | rs74575103 |
dbSNP (classic) | rs74575103 |
ClinGen | rs74575103 |
ebi | rs74575103 |
HLI | rs74575103 |
Exac | rs74575103 |
Gnomad | rs74575103 |
Varsome | rs74575103 |
LitVar | rs74575103 |
Map | rs74575103 |
PheGenI | rs74575103 |
Biobank | rs74575103 |
1000 genomes | rs74575103 |
hgdp | rs74575103 |
ensembl | rs74575103 |
geneview | rs74575103 |
scholar | rs74575103 |
rs74575103 | |
pharmgkb | rs74575103 |
gwascentral | rs74575103 |
openSNP | rs74575103 |
23andMe | rs74575103 |
SNPshot | rs74575103 |
SNPdbe | rs74575103 |
MSV3d | rs74575103 |
GWAS Ctlg | rs74575103 |
Max Magnitude | 2 |
aka c.944G>A (p.Arg315His, R315H)
Annotated in ClinVar as benign; described in OMIM as having "nearly normal properties"
23andMe name: i5053909
FTDNA & MyHeritage name: VGXS34738
ClinVar | |
---|---|
Risk | Rs74575103(T;T) |
Alt | Rs74575103(T;T) |
Reference | Rs74575103(C;C) |
Significance | Non-pathogenic |
Disease | Glucose 6 phosphate dehydrogenase deficiency |
Variation | info |
Gene | G6PD |
CLNDBN | Glucose 6 phosphate dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.153761801C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011080.3, |