Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 CausalMutation CLINVAR Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. 16542394

2006
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 CausalMutation CLINVAR The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. 12553167

2002
dbSNP: rs121908025
rs121908025
LDLR
0.750 GeneticVariation BEFREE DNA samples from 25 hypercholesterolemic patients with clinical features of FH and 25 normal controls were analyzed for four known point mutations: W66G (exon 3), E207K (exon 4), E387K (exon 9), and P664L (exon 14), which are those most reported among Indian immigrants in South Africa. 11138612

2000
dbSNP: rs121908025
rs121908025
LDLR
0.750 GeneticVariation BEFREE We have then genotyped five markers (D19S413, D19S865, D19S221, D19S914, D19S586) in 102 heterozygotes (38 del > 15kb; 36 W66G; 16 C646Y; 12 E207K), two compound heterozygotes (del > 15kb/W66G; del > 15kb/C646Y) and seven homozygotes (three del > 15 kb; three W66G: one E207K) with FH unrelated to the first and second degree. 10208489

1999
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 GeneticVariation CLINVAR Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia. 9676383

1998
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 GeneticVariation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195

1997
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 GeneticVariation CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431

1997
dbSNP: rs121908025
rs121908025
LDLR
0.750 GeneticVariation BEFREE Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family. 9066982

1997
dbSNP: rs121908025
rs121908025
LDLR
0.750 GeneticVariation BEFREE The transport-defective W556S mutation and the W23X and W66G mutations seem to account for about 40% of the LDL receptor defects in Danish families with FH. 9180246

1997
dbSNP: rs121908025
rs121908025
LDLR
0.750 GeneticVariation BEFREE Comparison of the mean lipid concentrations (unadjusted and adjusted for age), including serum total cholesterol and LDL-cholesterol, showed no significant differences between the two groups of FH heterozygote probands (cholesterol: 10.7 mmol/l vs. 10.7 mmol/l) and between the probands and 16 and 22 non-proband family members with the Trp23-stop (cholesterol: 10.1 mmol/l) ad Trp66-Gly (cholesterol: 10.7 mmol/l) mutations, respectively. 8645371

1996
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 GeneticVariation CLINVAR The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark. 8645371

1996
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 CausalMutation CLINVAR Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. 8098448

1993
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 CausalMutation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990
dbSNP: rs121908025
rs121908025
LDLR
G 0.750 GeneticVariation CLINVAR Common low-density lipoprotein receptor mutations in the French Canadian population. 2318961

1990
dbSNP: rs121908025
rs121908025
LDLR
C 0.750 CausalMutation CLINVAR