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: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo. 22157599

2012
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene. 21872251

2011
dbSNP: rs755104973
rs755104973
LDLRAP1
C 0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment. 15485476

2004
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. 12788851

2003
dbSNP: rs755104973
rs755104973
LDLRAP1
C 0.700 CausalMutation CLINVAR Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 12464675

2002
dbSNP: rs755104973
rs755104973
LDLRAP1
C 0.700 CausalMutation CLINVAR Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. 12016260

2002
dbSNP: rs781585299
rs781585299
LDLRAP1
AC 0.700 CausalMutation CLINVAR Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 12464675

2002
dbSNP: rs1201229554
rs1201229554
LDLRAP1
T 0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 11326085

2001
dbSNP: rs121908325
rs121908325
LDLRAP1
T 0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 11326085

2001
dbSNP: rs755104973
rs755104973
LDLRAP1
C 0.700 CausalMutation CLINVAR Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 11326085

2001
dbSNP: rs386629678
rs386629678
LDLRAP1
0.700 GeneticVariation UNIPROT

dbSNP: rs1019504966
rs1019504966
LDLRAP1
0.010 GeneticVariation BEFREE A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition. 30777337

2019
dbSNP: rs374045590
rs374045590
LDLR
0.010 GeneticVariation BEFREE Despite the analogous internalization defect predicted in ARH and homozygous LDLR:p.(Asn825Lys) lymphocytes, LDL uptake was higher in the former than in the latter. 30777337

2019
dbSNP: rs879254382
rs879254382
LDLR
0.010 GeneticVariation BEFREE A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition. 30777337

2019
dbSNP: rs121908324
rs121908324
LDLRAP1
0.010 GeneticVariation BEFREE Defects are most marked in ARH W22X cells, where translation starts at Met46, so the protein lacks a phosphorylation site at Ser14, identified by mass spectrometry of wild-type ARH. 21778424

2011