rs268, LPL

N. diseases: 41
Disease: Hyperlipoproteinemia Type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type I
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
0.030 GeneticVariation BEFREE Deciphering the role of V200A and N291S mutations leading to LPL deficiency. 30685441 2019
Hyperlipoproteinemia Type I
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
0.030 GeneticVariation BEFREE Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. 23761384 2013
Hyperlipoproteinemia Type I
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
0.030 GeneticVariation BEFREE The frequency of common mutations in the LPL gene associated with partial LPL deficiency (N291S and D9N carriers) in the lowest quartile for LPL activity was more than double the frequency in the highest quartile (12.0% vs. 5.0%; P = 0.006). 10191298 1999