rs74830677

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

124800125

Gene

SCARB1

is a	snp
is	mentioned by
dbSNP	rs74830677
dbSNP (classic)	rs74830677
ClinGen	rs74830677
ebi	rs74830677
HLI	rs74830677
Exac	rs74830677
Gnomad	rs74830677
Varsome	rs74830677
LitVar	rs74830677
Map	rs74830677
PheGenI	rs74830677
Biobank	rs74830677
1000 genomes	rs74830677
hgdp	rs74830677
ensembl	rs74830677
geneview	rs74830677
scholar	rs74830677
google	rs74830677
pharmgkb	rs74830677
gwascentral	rs74830677
openSNP	rs74830677
23andMe	rs74830677
SNPshot	rs74830677
SNPdbe	rs74830677
MSV3d	rs74830677
GWAS Ctlg	rs74830677

Max Magnitude

3

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.

ClinVar
Risk	Rs74830677(T;T)
Alt	Rs74830677(T;T)
Reference	Rs74830677(C;C)
Significance	Other
Disease	High density lipoprotein cholesterol level quantitative trait locus 6
Variation	info
Gene	SCARB1
CLNDBN	High density lipoprotein cholesterol level quantitative trait locus 6
Reversed	1
HGVS	NC_000012.11:g.125284671G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239517.1,