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rs74315307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315307(C;C)
Make rs74315307(C;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position55331078
GeneDHCR24
is asnp
is mentioned by
dbSNPrs74315307
ebirs74315307
HLIrs74315307
Exacrs74315307
Varsomers74315307
Maprs74315307
PheGenIrs74315307
hapmaprs74315307
1000 genomesrs74315307
hgdprs74315307
ensemblrs74315307
gopubmedrs74315307
geneviewrs74315307
scholarrs74315307
googlers74315307
pharmgkbrs74315307
gwascentralrs74315307
openSNPrs74315307
23andMers74315307
23andMe allrs74315307
SNP Nexus

SNPshotrs74315307
SNPdbers74315307
MSV3drs74315307
GWAS Ctlgrs74315307
StatusDeleted
Max Magnitude0
OMIM606418
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315307(C;C)
Alt rs74315307(C;C)
Reference rs74315307(G;G)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55331078C>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000024790.1,