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

rs387906939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906939(A;A)
Make rs387906939(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position54883724
GeneDHCR24
is asnp
is mentioned by
dbSNPrs387906939
ebirs387906939
HLIrs387906939
Exacrs387906939
Varsomers387906939
Maprs387906939
PheGenIrs387906939
hapmaprs387906939
1000 genomesrs387906939
hgdprs387906939
ensemblrs387906939
gopubmedrs387906939
geneviewrs387906939
scholarrs387906939
googlers387906939
pharmgkbrs387906939
gwascentralrs387906939
openSNPrs387906939
23andMers387906939
23andMe allrs387906939
SNP Nexus

SNPshotrs387906939
SNPdbers387906939
MSV3drs387906939
GWAS Ctlgrs387906939
Max Magnitude0
ClinVar
Risk rs387906939(A;A)
Alt rs387906939(A;A)
Reference rs387906939(G;G)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55349397C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023540.2,