Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548

1995
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482

1995
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973

1993
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662

1992
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748

1992
dbSNP: rs121908033
rs121908033
LDLR
0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200

1991
dbSNP: rs121908033
rs121908033
LDLR
0.810 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: rs121908033
rs121908033
LDLR
A 0.810 GeneticVariation CLINVAR

dbSNP: rs121908033
rs121908033
LDLR
A 0.810 CausalMutation CLINVAR