Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward. 27578104

2017

dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. 25463123

2014

dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. 21925044

2011

dbSNP: rs879254558
rs879254558
C 0.720 GeneticVariation CLINVAR Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms. 19837725

2010

dbSNP: rs879254558
rs879254558
G 0.720 GeneticVariation CLINVAR Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population. 20019594

2010

dbSNP: rs879254558
rs879254558
0.720 GeneticVariation BEFREE Eight different variations were found in 17 of the 28 Greek FH patients for an overall detection rate of 61%: c.41delT (1), p.W165X (1), p.C173R (3), p.S286R (2), p.V429M (4), p.G549D (4), p.V613I (1), and a previously unreported mutation p.F694V (1) which is predicted to be FH-causing by functional algorithms. 19837725

2010

dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution. 11317361

2001

dbSNP: rs879254558
rs879254558
0.720 GeneticVariation BEFREE The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M). 9544850

1998

dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR The characterization of 60% of LDLR mutations in a representative sample of Greek FH heterozygotes provides a basis for the diagnosis of FH through DNA analysis in Greece, by using single-strand conformation polymorphism analysis followed by allele-specific oligonucleotide hybridization (exon 6 mutations) or restriction endonuclease analysis (C152R, V408M). 9544850

1998

dbSNP: rs879254558
rs879254558
G 0.720 GeneticVariation CLINVAR Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample. 7489239

1995

dbSNP: rs879254558
rs879254558
C 0.720 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992

dbSNP: rs879254558
rs879254558
C 0.720 CausalMutation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992