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rs387906940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906940(A;A)
Make rs387906940(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position54852346
GeneDHCR24
is asnp
is mentioned by
dbSNPrs387906940
ebirs387906940
HLIrs387906940
Exacrs387906940
Varsomers387906940
Maprs387906940
PheGenIrs387906940
hapmaprs387906940
1000 genomesrs387906940
hgdprs387906940
ensemblrs387906940
gopubmedrs387906940
geneviewrs387906940
scholarrs387906940
googlers387906940
pharmgkbrs387906940
gwascentralrs387906940
openSNPrs387906940
23andMers387906940
23andMe allrs387906940
SNP Nexus

SNPshotrs387906940
SNPdbers387906940
MSV3drs387906940
GWAS Ctlgrs387906940
Max Magnitude0
ClinVar
Risk rs387906940(A;A)
Alt rs387906940(A;A)
Reference rs387906940(G;G)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55318019C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023541.3,