rs104894087
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 9.1 | Lipoid congenital adrenal hyperplasia (LCAH); treatment required |
(A;G) | 3 | Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 38144382 |
Gene | STAR |
is a | snp |
is | mentioned by |
dbSNP | rs104894087 |
dbSNP (classic) | rs104894087 |
ClinGen | rs104894087 |
ebi | rs104894087 |
HLI | rs104894087 |
Exac | rs104894087 |
Gnomad | rs104894087 |
Varsome | rs104894087 |
LitVar | rs104894087 |
Map | rs104894087 |
PheGenI | rs104894087 |
Biobank | rs104894087 |
1000 genomes | rs104894087 |
hgdp | rs104894087 |
ensembl | rs104894087 |
geneview | rs104894087 |
scholar | rs104894087 |
rs104894087 | |
pharmgkb | rs104894087 |
gwascentral | rs104894087 |
openSNP | rs104894087 |
23andMe | rs104894087 |
SNPshot | rs104894087 |
SNPdbe | rs104894087 |
MSV3d | rs104894087 |
GWAS Ctlg | rs104894087 |
Max Magnitude | 9.1 |
c.749G>A (p.Trp250Ter)
Named i5007374 by 23andMe.
ClinVar | |
---|---|
Risk | Rs104894087(A;A) |
Alt | Rs104894087(A;A) |
Reference | Rs104894087(G;G) |
Significance | Pathogenic |
Disease | Cholesterol monooxygenase (side-chain cleaving) deficiency |
Variation | info |
Gene | STAR |
CLNDBN | Cholesterol monooxygenase (side-chain cleaving) deficiency |
Reversed | 1 |
HGVS | NC_000008.10:g.38001900C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009554.2, |