rs76645461
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | |
(C;C) | 5 | G6PD deficiency |
(C;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 154536156 |
Gene | G6PD |
is a | snp |
is | mentioned by |
dbSNP | rs76645461 |
dbSNP (classic) | rs76645461 |
ClinGen | rs76645461 |
ebi | rs76645461 |
HLI | rs76645461 |
Exac | rs76645461 |
Gnomad | rs76645461 |
Varsome | rs76645461 |
LitVar | rs76645461 |
Map | rs76645461 |
PheGenI | rs76645461 |
Biobank | rs76645461 |
1000 genomes | rs76645461 |
hgdp | rs76645461 |
ensembl | rs76645461 |
geneview | rs76645461 |
scholar | rs76645461 |
rs76645461 | |
pharmgkb | rs76645461 |
gwascentral | rs76645461 |
openSNP | rs76645461 |
23andMe | rs76645461 |
SNPshot | rs76645461 |
SNPdbe | rs76645461 |
MSV3d | rs76645461 |
GWAS Ctlg | rs76645461 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | Rs76645461(C;C) |
Alt | Rs76645461(C;C) |
Reference | Rs76645461(T;T) |
Significance | Other |
Disease | G6PD AURES not provided |
Variation | info |
Gene | G6PD |
CLNDBN | G6PD AURES not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.153764371A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011145.1, RCV000224890.1, |