rs121908325, LDLRAP1

N. diseases: 1
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
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
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 11326085 2001