LDLR, low density lipoprotein receptor, 3949

N. diseases: 336; N. variants: 1434
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene. 9852677 1998
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		T 0.800 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. 9259195 1997
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		T 0.800 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. 7635482 1995
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 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: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973 1993
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748 1992
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662 1992
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.800 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: rs570942190
rs570942190
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		T 0.800 GeneticVariation CLINVAR