rs104894087

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
google	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.

OMIM	600617
Desc
Variant	0006
Related	also

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,