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rs28939092

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939092(A;C)
Make rs28939092(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position54852372
GeneDHCR24
is asnp
is mentioned by
dbSNPrs28939092
ebirs28939092
HLIrs28939092
Exacrs28939092
Varsomers28939092
Maprs28939092
PheGenIrs28939092
hapmaprs28939092
1000 genomesrs28939092
hgdprs28939092
ensemblrs28939092
gopubmedrs28939092
geneviewrs28939092
scholarrs28939092
googlers28939092
pharmgkbrs28939092
gwascentralrs28939092
openSNPrs28939092
23andMers28939092
23andMe allrs28939092
SNP Nexus

SNPshotrs28939092
SNPdbers28939092
MSV3drs28939092
GWAS Ctlgrs28939092
Max Magnitude0
OMIM606418
DescDESMOSTEROLOSIS
Variant0001
Relatedalso
ClinVar
Risk rs28939092(C;C)
Alt rs28939092(C;C)
Reference rs28939092(A;A)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55318045T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004615.3,