Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747507019
rs747507019
LDLR
0.810 GeneticVariation BEFREE In addition, the structure of PCSK9DeltaC bound to EGF(AB)(H306Y), a mutant associated with familial hypercholesterolemia (FH), reveals that the Tyr-306 side chain forms a hydrogen bond with PCSK9 Asp-374, thus mimicking His-306 in the low pH conformation. 19001363

2009
dbSNP: rs747507019
rs747507019
LDLR
0.810 GeneticVariation UNIPROT

dbSNP: rs747507019
rs747507019
LDLR
T 0.810 GeneticVariation CLINVAR