rs28931607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28931607(A;A) |
Make rs28931607(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 75985959 |
Gene | POR |
is a | snp |
is | mentioned by |
dbSNP | rs28931607 |
dbSNP (classic) | rs28931607 |
ClinGen | rs28931607 |
ebi | rs28931607 |
HLI | rs28931607 |
Exac | rs28931607 |
Gnomad | rs28931607 |
Varsome | rs28931607 |
LitVar | rs28931607 |
Map | rs28931607 |
PheGenI | rs28931607 |
Biobank | rs28931607 |
1000 genomes | rs28931607 |
hgdp | rs28931607 |
ensembl | rs28931607 |
geneview | rs28931607 |
scholar | rs28931607 |
rs28931607 | |
pharmgkb | rs28931607 |
gwascentral | rs28931607 |
openSNP | rs28931607 |
23andMe | rs28931607 |
SNPshot | rs28931607 |
SNPdbe | rs28931607 |
MSV3d | rs28931607 |
GWAS Ctlg | rs28931607 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28931607(A;A) |
Alt | rs28931607(A;A) |
Reference | Rs28931607(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.75615277G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018402.24, |