rs137852690

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

38145313

Gene

STAR

is a	snp
is	mentioned by
dbSNP	rs137852690
dbSNP (classic)	rs137852690
ClinGen	rs137852690
ebi	rs137852690
HLI	rs137852690
Exac	rs137852690
Gnomad	rs137852690
Varsome	rs137852690
LitVar	rs137852690
Map	rs137852690
PheGenI	rs137852690
Biobank	rs137852690
1000 genomes	rs137852690
hgdp	rs137852690
ensembl	rs137852690
geneview	rs137852690
scholar	rs137852690
google	rs137852690
pharmgkb	rs137852690
gwascentral	rs137852690
openSNP	rs137852690
23andMe	rs137852690
SNPshot	rs137852690
SNPdbe	rs137852690
MSV3d	rs137852690
GWAS Ctlg	rs137852690

Max Magnitude

9.1

c.653C>T (p.Ala218Val)

Named i5048667 by 23andMe

OMIM	600617
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs137852690(T;T)
Alt	Rs137852690(T;T)
Reference	Rs137852690(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.38002831G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009556.4,