Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853965
rs137853965
LDLR
TC 0.700 CausalMutation CLINVAR Genetic identification of familial hypercholesterolemia within a single U.S. health care system. 28008010

2016
dbSNP: rs137853965
rs137853965
LDLR
TC 0.700 CausalMutation CLINVAR The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia. 23680767

2013
dbSNP: rs137853965
rs137853965
LDLR
TC 0.700 CausalMutation CLINVAR Genetic analysis of familial hypercholesterolaemia in Western Australia. 22883975

2012
dbSNP: rs137853965
rs137853965
LDLR
TC 0.700 CausalMutation CLINVAR Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. 16389549

2006
dbSNP: rs137853965
rs137853965
LDLR
TC 0.700 CausalMutation CLINVAR Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. 16159606

2005