rs137852327
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5 | G6PD deficiency |
(A;G) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 154533122 |
Gene | G6PD |
is a | snp |
is | mentioned by |
dbSNP | rs137852327 |
dbSNP (classic) | rs137852327 |
ClinGen | rs137852327 |
ebi | rs137852327 |
HLI | rs137852327 |
Exac | rs137852327 |
Gnomad | rs137852327 |
Varsome | rs137852327 |
LitVar | rs137852327 |
Map | rs137852327 |
PheGenI | rs137852327 |
Biobank | rs137852327 |
1000 genomes | rs137852327 |
hgdp | rs137852327 |
ensembl | rs137852327 |
geneview | rs137852327 |
scholar | rs137852327 |
rs137852327 | |
pharmgkb | rs137852327 |
gwascentral | rs137852327 |
openSNP | rs137852327 |
23andMe | rs137852327 |
SNPshot | rs137852327 |
SNPdbe | rs137852327 |
MSV3d | rs137852327 |
GWAS Ctlg | rs137852327 |
Max Magnitude | 5 |
23andMe name: i5008436
ClinVar | |
---|---|
Risk | Rs137852327(A;A) |
Alt | Rs137852327(A;A) |
Reference | Rs137852327(G;G) |
Significance | Other |
Disease | G6PD VIANGCHAN G6PD JAMMU not provided Anemia Glucose 6 phosphate dehydrogenase deficiency |
Variation | info |
Gene | G6PD |
CLNDBN | G6PD VIANGCHAN G6PD JAMMU not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency Glucose 6 phosphate dehydrogenase deficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.153761337C>T |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000011116.3, RCV000011117.3, RCV000079415.3, RCV000180545.2, RCV000405688.1, |