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rs1920045

From SNPedia

Orientationminus
Stabilizedminus
Make rs1920045(A;A)
Make rs1920045(A;G)
Make rs1920045(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position54276614
GeneCBX5
is asnp
is mentioned by
dbSNPrs1920045
ebirs1920045
HLIrs1920045
Exacrs1920045
Varsomers1920045
Maprs1920045
PheGenIrs1920045
hapmaprs1920045
1000 genomesrs1920045
hgdprs1920045
ensemblrs1920045
gopubmedrs1920045
geneviewrs1920045
scholarrs1920045
googlers1920045
pharmgkbrs1920045
gwascentralrs1920045
openSNPrs1920045
23andMers1920045
23andMe allrs1920045
SNP Nexus

SNPshotrs1920045
SNPdbers1920045
MSV3drs1920045
GWAS Ctlgrs1920045
GMAF0.4481
Max Magnitude
? (A;A) (A;G) (G;G) 28

Associated with Heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1) exon 8 alternative splicing. Study presents evidence that it is a sterol-regulated splicing factor that binds to HMGCR binding motif at rs3846662 in turn modulating its alternative splicing. Consistent with this evidence, rs1920045 AA homozygote minor allele was found to modestly reduce the effectiveness of statins in lowering total plasma cholesterol in two independent clinical trials, CAP and PRINCE (P=0.006 combined)[[1]]. The study notes this SNP is in LD with HNRPA1 promoter region, and therefore likely just tags the causal variant within the promoter region.

[PMID 24001602OA-icon.png] HNRNPA1 regulates HMGCR alternative splicing and modulates cellular cholesterol metabolism