rs137852689

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	9.1	Lipoid congenital adrenal hyperplasia (LCAH); treatment required
(C;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

38145963

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs137852689
dbSNP (classic)	rs137852689
ClinGen	rs137852689
ebi	rs137852689
HLI	rs137852689
Exac	rs137852689
Gnomad	rs137852689
Varsome	rs137852689
LitVar	rs137852689
Map	rs137852689
PheGenI	rs137852689
Biobank	rs137852689
1000 genomes	rs137852689
hgdp	rs137852689
ensembl	rs137852689
geneview	rs137852689
scholar	rs137852689
google	rs137852689
pharmgkb	rs137852689
gwascentral	rs137852689
openSNP	rs137852689
23andMe	rs137852689
SNPshot	rs137852689
SNPdbe	rs137852689
MSV3d	rs137852689
GWAS Ctlg	rs137852689

Max Magnitude

9.1

OMIM	600617
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs137852689(C;C)
Alt	Rs137852689(C;C)
Reference	Rs137852689(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.38003481C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009555.2,