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rs74830677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 2.5 reported to increase heart disease risk yet also HDL-C (by 8.4mg/dl)
(T;T) 3 reported to be associated with higher HDL-C
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position124800125
GeneSCARB1
is asnp
is mentioned by
dbSNPrs74830677
ebirs74830677
HLIrs74830677
Exacrs74830677
Varsomers74830677
Maprs74830677
PheGenIrs74830677
hapmaprs74830677
1000 genomesrs74830677
hgdprs74830677
ensemblrs74830677
gopubmedrs74830677
geneviewrs74830677
scholarrs74830677
googlers74830677
pharmgkbrs74830677
gwascentralrs74830677
openSNPrs74830677
23andMers74830677
23andMe allrs74830677
SNP Nexus

SNPshotrs74830677
SNPdbers74830677
MSV3drs74830677
GWAS Ctlgrs74830677
Max Magnitude3
rs74830677, also known as c.1127C>T, p.Pro367Leu and P367L, represents a rare variation in the SCARB1 gene on chromosome 12.


[PMID 26965621] Targeted exome sequencing lipid-modifying genes in 328 individuals with extremely high plasma HDL-C levels led to the discovery of a rs74830677(T;T) homozygote. In a total of 852 individuals with high HDL-C compared to 1,156 with low HDL-C, the rs74830677(T) allele was significantly over-represented and, surprisingly, it was also associated with increased risk for coronary heart disease (odds ratio 1.79, p<0.0001). A carrier of the (T) allele appears to have a higher HDL-C of 8.4mg/dl on average. The variant allele was also said to apparently be relatively specific to Ashkenazi Jews.