rs193922393

minus

Geno	Mag	Summary
(-;-)	9.1	Lipoid congenital adrenal hyperplasia (LCAH); treatment required
(-;T)	3	Carrier of a mutation for lipoid congenital adrenal hyperplasia (LCAH)
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

8

Position

38148684

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs193922393
dbSNP (classic)	rs193922393
ClinGen	rs193922393
ebi	rs193922393
HLI	rs193922393
Exac	rs193922393
Gnomad	rs193922393
Varsome	rs193922393
LitVar	rs193922393
Map	rs193922393
PheGenI	rs193922393
Biobank	rs193922393
1000 genomes	rs193922393
hgdp	rs193922393
ensembl	rs193922393
geneview	rs193922393
scholar	rs193922393
google	rs193922393
pharmgkb	rs193922393
gwascentral	rs193922393
openSNP	rs193922393
23andMe	rs193922393
SNPshot	rs193922393
SNPdbe	rs193922393
MSV3d	rs193922393
GWAS Ctlg	rs193922393

Max Magnitude

9.1

ClinVar
Risk	Rs193922393(-;-)
Alt	Rs193922393(-;-)
Reference	Rs193922393(T;T)
Significance	Probable-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.38006202delA
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030462.1,

[PMID 9141542] Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein.

[PMID 10486704] Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.