rs786205099
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205099(A;A) |
Make rs786205099(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 75981607 |
Gene | POR |
is a | snp |
is | mentioned by |
dbSNP | rs786205099 |
dbSNP (classic) | rs786205099 |
ClinGen | rs786205099 |
ebi | rs786205099 |
HLI | rs786205099 |
Exac | rs786205099 |
Gnomad | rs786205099 |
Varsome | rs786205099 |
LitVar | rs786205099 |
Map | rs786205099 |
PheGenI | rs786205099 |
Biobank | rs786205099 |
1000 genomes | rs786205099 |
hgdp | rs786205099 |
ensembl | rs786205099 |
geneview | rs786205099 |
scholar | rs786205099 |
rs786205099 | |
pharmgkb | rs786205099 |
gwascentral | rs786205099 |
openSNP | rs786205099 |
23andMe | rs786205099 |
SNPshot | rs786205099 |
SNPdbe | rs786205099 |
MSV3d | rs786205099 |
GWAS Ctlg | rs786205099 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205099(A;A) |
Alt | rs786205099(A;A) |
Reference | Rs786205099(G;G) |
Significance | Pathogenic |
Disease | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
Variation | info |
Gene | POR |
CLNDBN | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
Reversed | 0 |
HGVS | NC_000007.13:g.75610925G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018404.30, |