Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 GeneticVariation CLINVAR [Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in the low-density lipoprotein receptor in patients with familial hypercholesterolemia from St. Petersburg]. 11641914

2002
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 GeneticVariation CLINVAR Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig. 11139254

2001
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 CausalMutation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 GeneticVariation CLINVAR LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias. 9654205

1998
dbSNP: rs137929307
rs137929307
LDLR
A 0.710 GeneticVariation CLINVAR Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. 1301956

1992