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: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Molecular genetics of familial hypercholesterolaemia in Norway. 9104431 1997
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Possible common mutations in the low density lipoprotein receptor gene in Chinese. 9452118 1998
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Management of familial heterozygous hypercholesterolemia: Position Paper of the Polish Lipid Expert Forum. 23725921 2013
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		G 0.820 GeneticVariation CLINVAR
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. 24418289 2014
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. 21600525 2011
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. 17347910 2007
dbSNP: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 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: rs373822756
rs373822756
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.820 GeneticVariation UNIPROT Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. 7583548 1995