rs104894090

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

38146051

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs104894090
dbSNP (classic)	rs104894090
ClinGen	rs104894090
ebi	rs104894090
HLI	rs104894090
Exac	rs104894090
Gnomad	rs104894090
Varsome	rs104894090
LitVar	rs104894090
Map	rs104894090
PheGenI	rs104894090
Biobank	rs104894090
1000 genomes	rs104894090
hgdp	rs104894090
ensembl	rs104894090
geneview	rs104894090
scholar	rs104894090
google	rs104894090
pharmgkb	rs104894090
gwascentral	rs104894090
openSNP	rs104894090
23andMe	rs104894090
SNPshot	rs104894090
SNPdbe	rs104894090
MSV3d	rs104894090
GWAS Ctlg	rs104894090

Max Magnitude

9.1

c.562C>T (p.Arg188Cys)

Named i5007377 by 23andMe

OMIM	600617
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs104894090(T;T)
Alt	Rs104894090(T;T)
Reference	Rs104894090(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.38003569G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009560.4,