rs104894089

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

38146054

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs104894089
dbSNP (classic)	rs104894089
ClinGen	rs104894089
ebi	rs104894089
HLI	rs104894089
Exac	rs104894089
Gnomad	rs104894089
Varsome	rs104894089
LitVar	rs104894089
Map	rs104894089
PheGenI	rs104894089
Biobank	rs104894089
1000 genomes	rs104894089
hgdp	rs104894089
ensembl	rs104894089
geneview	rs104894089
scholar	rs104894089
google	rs104894089
pharmgkb	rs104894089
gwascentral	rs104894089
openSNP	rs104894089
23andMe	rs104894089
SNPshot	rs104894089
SNPdbe	rs104894089
MSV3d	rs104894089
GWAS Ctlg	rs104894089

Max Magnitude

9.1

c.559G>A (p.Val187Met)

Named i5007376 by 23andMe

OMIM	600617
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs104894089(A;A)
Alt	Rs104894089(A;A)
Reference	Rs104894089(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.38003572C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009559.2,