Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431

1997
dbSNP: rs121908025
rs121908025
LDLR
0.860 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
0.860 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
0.860 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
0.860 GeneticVariation UNIPROT Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. 7550239

1995
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482

1995
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973

1993
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662

1992
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200

1991
dbSNP: rs121908025
rs121908025
LDLR
0.860 GeneticVariation UNIPROT Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. 2726768

1989
dbSNP: rs121908025
rs121908025
LDLR
G 0.860 GeneticVariation CLINVAR

dbSNP: rs121908025
rs121908025
LDLR
G 0.860 CausalMutation CLINVAR