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rs387906938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906938(C;T)
Make rs387906938(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54883698
GeneDHCR24
is asnp
is mentioned by
dbSNPrs387906938
ebirs387906938
HLIrs387906938
Exacrs387906938
Varsomers387906938
Maprs387906938
PheGenIrs387906938
hapmaprs387906938
1000 genomesrs387906938
hgdprs387906938
ensemblrs387906938
gopubmedrs387906938
geneviewrs387906938
scholarrs387906938
googlers387906938
pharmgkbrs387906938
gwascentralrs387906938
openSNPrs387906938
23andMers387906938
23andMe allrs387906938
SNP Nexus

SNPshotrs387906938
SNPdbers387906938
MSV3drs387906938
GWAS Ctlgrs387906938
Max Magnitude0
ClinVar
Risk rs387906938(T;T)
Alt rs387906938(T;T)
Reference rs387906938(C;C)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55349371G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023539.2,