Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Genetic analysis of familial hypercholesterolaemia in Western Australia. 22883975

2012
dbSNP: rs112029328
rs112029328
LDLR
C 0.700 CausalMutation CLINVAR New contributions to the study of common double mutants in the human LDL receptor gene. 21935675

2011
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3. 19361455

2009
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Intronic mutations at splice junctions in the low-density lipoprotein receptor gene. 10441197

1999
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. 7749829

1995
dbSNP: rs112029328
rs112029328
LDLR
A 0.700 CausalMutation CLINVAR Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. 7718019

1994