rs786205876
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAAGCAAGACCGAGAGCACCTGT;TAAAGCAAGACCGAGAGCACCTGT) | 0 | common in clinvar |
Make rs786205876(-;-) |
Make rs786205876(-;TAAAGCAAGACCGAGAGCACCTGT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 75986178 |
Gene | POR |
is a | snp |
is | mentioned by |
dbSNP | rs786205876 |
dbSNP (classic) | rs786205876 |
ClinGen | rs786205876 |
ebi | rs786205876 |
HLI | rs786205876 |
Exac | rs786205876 |
Gnomad | rs786205876 |
Varsome | rs786205876 |
LitVar | rs786205876 |
Map | rs786205876 |
PheGenI | rs786205876 |
Biobank | rs786205876 |
1000 genomes | rs786205876 |
hgdp | rs786205876 |
ensembl | rs786205876 |
geneview | rs786205876 |
scholar | rs786205876 |
rs786205876 | |
pharmgkb | rs786205876 |
gwascentral | rs786205876 |
openSNP | rs786205876 |
23andMe | rs786205876 |
SNPshot | rs786205876 |
SNPdbe | rs786205876 |
MSV3d | rs786205876 |
GWAS Ctlg | rs786205876 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205876(-;-) |
Alt | rs786205876(-;-) |
Reference | Rs786205876(TAAAGCAAGACCGAGAGCACCTGT;TAAAGCAAGACCGAGAGCACCTGT) |
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.75615496_75615519del24 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018412.25, |