rs387907235

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

38146036

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs387907235
dbSNP (classic)	rs387907235
ClinGen	rs387907235
ebi	rs387907235
HLI	rs387907235
Exac	rs387907235
Gnomad	rs387907235
Varsome	rs387907235
LitVar	rs387907235
Map	rs387907235
PheGenI	rs387907235
Biobank	rs387907235
1000 genomes	rs387907235
hgdp	rs387907235
ensembl	rs387907235
geneview	rs387907235
scholar	rs387907235
google	rs387907235
pharmgkb	rs387907235
gwascentral	rs387907235
openSNP	rs387907235
23andMe	rs387907235
SNPshot	rs387907235
SNPdbe	rs387907235
MSV3d	rs387907235
GWAS Ctlg	rs387907235

Max Magnitude

9.1

c.577C>T (p.Arg193Ter)

Named i5048655 by 23andMe

ClinVar
Risk	Rs387907235(T;T)
Alt	Rs387907235(T;T)
Reference	Rs387907235(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.38003554G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029206.4,