Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908325
rs121908325
LDLRAP1
T 0.700 CausalMutation CLINVAR Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy. 27247956

2016
dbSNP: rs121908325
rs121908325
LDLRAP1
T 0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 11326085

2001