Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922393(-;-)
Make rs193922393(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position38148684
GeneSTAR
is asnp
is mentioned by
dbSNPrs193922393
ebirs193922393
HLIrs193922393
Exacrs193922393
Varsomers193922393
Maprs193922393
PheGenIrs193922393
hapmaprs193922393
1000 genomesrs193922393
hgdprs193922393
ensemblrs193922393
gopubmedrs193922393
geneviewrs193922393
scholarrs193922393
googlers193922393
pharmgkbrs193922393
gwascentralrs193922393
openSNPrs193922393
23andMers193922393
23andMe allrs193922393
SNP Nexus

SNPshotrs193922393
SNPdbers193922393
MSV3drs193922393
GWAS Ctlgrs193922393
Max Magnitude0
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.