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rs74315308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315308(A;C)
Make rs74315308(C;C)
ReferenceGRCh37 37.1/132
Chromosome1
Position55331115
GeneDHCR24
is asnp
is mentioned by
dbSNPrs74315308
ebirs74315308
HLIrs74315308
Exacrs74315308
Varsomers74315308
Maprs74315308
PheGenIrs74315308
hapmaprs74315308
1000 genomesrs74315308
hgdprs74315308
ensemblrs74315308
gopubmedrs74315308
geneviewrs74315308
scholarrs74315308
googlers74315308
pharmgkbrs74315308
gwascentralrs74315308
openSNPrs74315308
23andMers74315308
23andMe allrs74315308
SNP Nexus

SNPshotrs74315308
SNPdbers74315308
MSV3drs74315308
GWAS Ctlgrs74315308
StatusDeleted
Max Magnitude0
OMIM606418
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315308(C;C)
Alt rs74315308(C;C)
Reference rs74315308(A;A)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55331115T>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000024790.1,