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rs119475041

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119475041(A;A)
Make rs119475041(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position54875134
GeneDHCR24
is asnp
is mentioned by
dbSNPrs119475041
ebirs119475041
HLIrs119475041
Exacrs119475041
Varsomers119475041
Maprs119475041
PheGenIrs119475041
hapmaprs119475041
1000 genomesrs119475041
hgdprs119475041
ensemblrs119475041
gopubmedrs119475041
geneviewrs119475041
scholarrs119475041
googlers119475041
pharmgkbrs119475041
gwascentralrs119475041
openSNPrs119475041
23andMers119475041
23andMe allrs119475041
SNP Nexus

SNPshotrs119475041
SNPdbers119475041
MSV3drs119475041
GWAS Ctlgrs119475041
Merged fromRs28939093
Max Magnitude0
OMIM606418
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119475041(A,C;A,C)
Alt rs119475041(A,C;A,C)
Reference rs119475041(G;G)
Significance Pathogenic
Disease Desmosterolosis
Variation info
Gene DHCR24
CLNDBN Desmosterolosis
Reversed 1
HGVS NC_000001.10:g.55340807C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004617.2,