Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519667
rs1057519667
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519669
rs1057519669
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519670
rs1057519670
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519673
rs1057519673
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500986
rs1060500986
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500987
rs1060500987
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692203
rs1131692203
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692204
rs1131692204
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692205
rs1131692205
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692206
rs1131692206
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1131692207
rs1131692207
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692208
rs1131692208
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692209
rs1131692209
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692210
rs1131692210
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692211
rs1131692211
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692212
rs1131692212
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1135402773
rs1135402773
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402774
rs1135402774
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1135402776
rs1135402776
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113669610
rs113669610
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004
dbSNP: rs113669610
rs113669610
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. 10532689

1999
dbSNP: rs113669610
rs113669610
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		A 0.700 CausalMutation CLINVAR The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. 19446849

2009
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		T 0.700 GeneticVariation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 GeneticVariation CLINVAR A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. 1446662

1992
dbSNP: rs121908036
rs121908036
LDLR ; MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		C 0.700 CausalMutation CLINVAR