Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137929307
rs137929307
LDLR
0.810 GeneticVariation BEFREE LDLR gene resequencing showed that proband I.G., with the clinical diagnosis of homozygous FH, was homozygous for a mutation in exon 12 (c.1775 G>A, G571E) known to be pathogenic, and heterozygous for a mutation in intron 14 (c.2140 +5G>A). 19467224

2009
dbSNP: rs137929307
rs137929307
LDLR
0.810 GeneticVariation UNIPROT

dbSNP: rs137929307
rs137929307
LDLR
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137929307
rs137929307
LDLR
A 0.810 CausalMutation CLINVAR