Variant: rs730882078 

    present in Gene: LDLR
    present in Chromosome: 19
    Position on Chromosome: 11102714
    Alleles of this Variant: C/A;T

rs730882078 in LDLR gene and Early-onset coronary artery disease PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 21642693 2011 Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

rs730882078 in LDLR gene and Familial hypercholesterolemia - homozygous PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 20506408 2010 Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 21642693 2011 Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 10422804 1999 Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

PMID 9712531 1998 Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

rs730882078 in LDLR gene and Hypercholesterolemia, Familial PMID 11810272 2001 The molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 9712531 1998 Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B.

PMID 10422804 1999 Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 19318025 2009 Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.