rs104894085

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

38144359

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs104894085
dbSNP (classic)	rs104894085
ClinGen	rs104894085
ebi	rs104894085
HLI	rs104894085
Exac	rs104894085
Gnomad	rs104894085
Varsome	rs104894085
LitVar	rs104894085
Map	rs104894085
PheGenI	rs104894085
Biobank	rs104894085
1000 genomes	rs104894085
hgdp	rs104894085
ensembl	rs104894085
geneview	rs104894085
scholar	rs104894085
google	rs104894085
pharmgkb	rs104894085
gwascentral	rs104894085
openSNP	rs104894085
23andMe	rs104894085
SNPshot	rs104894085
SNPdbe	rs104894085
MSV3d	rs104894085
GWAS Ctlg	rs104894085

Max Magnitude

9.1

c.772C>T (p.Gln258Ter)

Named i5048654 by 23andMe.

OMIM	600617
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs104894085(T;T)
Alt	Rs104894085(T;T)
Reference	Rs104894085(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.38001877G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009550.2,