rs387907235

From SNPedia
Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome8
Position38146036
GeneSTAR
is asnp
is mentioned by
dbSNPrs387907235
dbSNP (old)rs387907235
ClinGenrs387907235
ebirs387907235
HLIrs387907235
Exacrs387907235
Gnomadrs387907235
Varsomers387907235
Maprs387907235
PheGenIrs387907235
Biobankrs387907235
1000 genomesrs387907235
hgdprs387907235
ensemblrs387907235
gopubmedrs387907235
geneviewrs387907235
scholarrs387907235
googlers387907235
pharmgkbrs387907235
gwascentralrs387907235
openSNPrs387907235
23andMers387907235
23andMe allrs387907235
SNP Nexus

SNPshotrs387907235
SNPdbers387907235
MSV3drs387907235
GWAS Ctlgrs387907235
Max Magnitude9.1

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,