Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. 27784735

2016

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats. 25545329

2015

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. 25647241

2015

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland. 22859806

2012

dbSNP: rs200727689
rs200727689
C 0.710 GeneticVariation CLINVAR Update of the Portuguese Familial Hypercholesterolaemia Study. 20828696

2010

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. 19007590

2008

dbSNP: rs200727689
rs200727689
T 0.710 GeneticVariation CLINVAR Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. 17539906

2007

dbSNP: rs200727689
rs200727689
A 0.710 GeneticVariation CLINVAR Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. 16205024

2005

dbSNP: rs200727689
rs200727689
C 0.710 GeneticVariation CLINVAR Update of the molecular basis of familial hypercholesterolemia in The Netherlands. 16250003

2005

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia. 16205024

2005

dbSNP: rs200727689
rs200727689
A 0.710 GeneticVariation CLINVAR Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. 15556094

2004

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. 15556094

2004

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR The UMD-LDLR database: additions to the software and 490 new entries to the database. 12124988

2002

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. 9678702

1998

dbSNP: rs200727689
rs200727689
A 0.710 GeneticVariation CLINVAR Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland. 9678702

1998

dbSNP: rs200727689
rs200727689
A 0.710 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997

dbSNP: rs200727689
rs200727689
A 0.710 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997

dbSNP: rs200727689
rs200727689
T 0.710 GeneticVariation CLINVAR Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia. 8740918

1996

dbSNP: rs200727689
rs200727689
0.710 GeneticVariation BEFREE Three mutations-del197 (FH-Lithuania), D147H (FH-Sephardic), and stop660 (Lebanese allele)-were found in a total of 66 index cases (34%); these may be regarded as founder mutations in the three respective origin groups. 8882879

1996

dbSNP: rs200727689
rs200727689
C 0.710 GeneticVariation CLINVAR A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973

1993

dbSNP: rs200727689
rs200727689
C 0.710 CausalMutation CLINVAR