rs397509365, LDLR

N. diseases: 5
Disease: Hypercholesterolemia, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003 2005
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 GeneticVariation BEFREE Two of these common FH mutations (N543H-2393de19 and 1359 - 1G-->A) showed a preferential geographic distribution. 10735632 2000
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 CausalMutation CLINVAR
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.710 CausalMutation CLINVAR