Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs750518671
rs750518671
LDLR
T 0.710 GeneticVariation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs750518671
rs750518671
LDLR
T 0.710 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. 9763532

1998
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 CausalMutation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995
dbSNP: rs750518671
rs750518671
LDLR
A 0.710 GeneticVariation CLINVAR Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. 7649549

1995