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: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). 10422803 1999
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
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: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland. 22160468 2012
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
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: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.810 GeneticVariation UNIPROT A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. 1867200 1991
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		A 0.810 CausalMutation CLINVAR
dbSNP: rs28942080
rs28942080
Entrez Id: 3949;102465534
Gene Symbol: LDLR;MIR6886
LDLR;MIR6886
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		A 0.810 GeneticVariation CLINVAR