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: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation BEFREE Two individuals (FH-64 and FH-127) were found to be carriers of the Cys297-->Phe mutation. 8168830 1994
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. 8462973 1993
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662 1992
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin. 1464748 1992
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		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: rs879254739
rs879254739
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		T 0.810 GeneticVariation CLINVAR