rs137852345
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(T;T) | 5 | G6PD deficiency |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154532772 |
Gene | G6PD |
is a | snp |
is | mentioned by |
dbSNP | rs137852345 |
dbSNP (classic) | rs137852345 |
ClinGen | rs137852345 |
ebi | rs137852345 |
HLI | rs137852345 |
Exac | rs137852345 |
Gnomad | rs137852345 |
Varsome | rs137852345 |
LitVar | rs137852345 |
Map | rs137852345 |
PheGenI | rs137852345 |
Biobank | rs137852345 |
1000 genomes | rs137852345 |
hgdp | rs137852345 |
ensembl | rs137852345 |
geneview | rs137852345 |
scholar | rs137852345 |
rs137852345 | |
pharmgkb | rs137852345 |
gwascentral | rs137852345 |
openSNP | rs137852345 |
23andMe | rs137852345 |
SNPshot | rs137852345 |
SNPdbe | rs137852345 |
MSV3d | rs137852345 |
GWAS Ctlg | rs137852345 |
Max Magnitude | 5 |
23andMe name: i5008459
ClinVar | |
---|---|
Risk | Rs137852345(T;T) |
Alt | Rs137852345(T;T) |
Reference | Rs137852345(C;C) |
Significance | Other |
Disease | G6PD SERRES Anemia |
Variation | info |
Gene | G6PD |
CLNDBN | G6PD SERRES Anemia, nonspeherocytic hemolytic, due to g6pd deficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.153760987G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011153.4, RCV000143788.4, |