rs72552772
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs72552772(G;T) |
Make rs72552772(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 75986165 |
Gene | POR |
is a | snp |
is | mentioned by |
dbSNP | rs72552772 |
dbSNP (classic) | rs72552772 |
ClinGen | rs72552772 |
ebi | rs72552772 |
HLI | rs72552772 |
Exac | rs72552772 |
Gnomad | rs72552772 |
Varsome | rs72552772 |
LitVar | rs72552772 |
Map | rs72552772 |
PheGenI | rs72552772 |
Biobank | rs72552772 |
1000 genomes | rs72552772 |
hgdp | rs72552772 |
ensembl | rs72552772 |
geneview | rs72552772 |
scholar | rs72552772 |
rs72552772 | |
pharmgkb | rs72552772 |
gwascentral | rs72552772 |
openSNP | rs72552772 |
23andMe | rs72552772 |
SNPshot | rs72552772 |
SNPdbe | rs72552772 |
MSV3d | rs72552772 |
GWAS Ctlg | rs72552772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72552772(A;A) rs72552772(T;T) |
Alt | rs72552772(A;A) rs72552772(T;T) |
Reference | Rs72552772(G;G) |
Significance | Pathogenic |
Disease | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
Variation | info |
Gene | POR |
CLNDBN | Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
Reversed | 0 |
HGVS | NC_000007.13:g.75615483G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018403.24, |