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rs281797257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281797257(G;G)
Make rs281797257(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position54865442
GeneDHCR24
is asnp
is mentioned by
dbSNPrs281797257
ebirs281797257
HLIrs281797257
Exacrs281797257
Varsomers281797257
Maprs281797257
PheGenIrs281797257
hapmaprs281797257
1000 genomesrs281797257
hgdprs281797257
ensemblrs281797257
gopubmedrs281797257
geneviewrs281797257
scholarrs281797257
googlers281797257
pharmgkbrs281797257
gwascentralrs281797257
openSNPrs281797257
23andMers281797257
23andMe allrs281797257
SNP Nexus

SNPshotrs281797257
SNPdbers281797257
MSV3drs281797257
GWAS Ctlgrs281797257
Max Magnitude0
ClinVar
Risk rs281797257(G;G)
Alt rs281797257(G;G)
Reference rs281797257(T;T)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 0
HGVS NC_000001.10:g.55331115T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004616.4,