rs387907235
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH) |
(T;T) | 9.1 | Lipoid congenital adrenal hyperplasia (LCAH); treatment required |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 38146036 |
Gene | STAR |
is a | snp |
is | mentioned by |
dbSNP | rs387907235 |
dbSNP (classic) | rs387907235 |
ClinGen | rs387907235 |
ebi | rs387907235 |
HLI | rs387907235 |
Exac | rs387907235 |
Gnomad | rs387907235 |
Varsome | rs387907235 |
LitVar | rs387907235 |
Map | rs387907235 |
PheGenI | rs387907235 |
Biobank | rs387907235 |
1000 genomes | rs387907235 |
hgdp | rs387907235 |
ensembl | rs387907235 |
geneview | rs387907235 |
scholar | rs387907235 |
rs387907235 | |
pharmgkb | rs387907235 |
gwascentral | rs387907235 |
openSNP | rs387907235 |
23andMe | rs387907235 |
SNPshot | rs387907235 |
SNPdbe | rs387907235 |
MSV3d | rs387907235 |
GWAS Ctlg | rs387907235 |
Max Magnitude | 9.1 |
c.577C>T (p.Arg193Ter)
Named i5048655 by 23andMe
ClinVar | |
---|---|
Risk | Rs387907235(T;T) |
Alt | Rs387907235(T;T) |
Reference | Rs387907235(C;C) |
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.38003554G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029206.4, |