Gene: APOB ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499841
rs1060499841
APOB
C 0.700 CausalMutation CLINVAR

dbSNP: rs1135402762
rs1135402762
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1135402764
rs1135402764
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1135402765
rs1135402765
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402766
rs1135402766
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1226992086
rs1226992086
APOB
0.010 GeneticVariation BEFREE The two major rearrangements and the missense mutation G266C are novel mutations and could well be causative of FH in the Moroccan population. 12730724

2003
dbSNP: rs12713559
rs12713559
APOB
0.030 GeneticVariation BEFREE The surprising result that only two mutations of apoB in the receptor-binding domain (Arg 3500 Gln and Arg 3531 Cys) were associated with defective LDL binding, hypercholesterolemia, or CAD is in stark contrast with familial hypercholesterolemia, where nearly 150 mutations of the LDL receptor have been described that disrupt its function. 9254062

1997
dbSNP: rs12713559
rs12713559
APOB
0.030 GeneticVariation BEFREE The R3500Q and R3531C mutations are absent in our probands and for 1 proband, the implication of LDLR, APOB and PCSK9 genes was excluded, supporting the implication of a fourth gene in the determination of FH. 16806138

2006
dbSNP: rs12713559
rs12713559
APOB
0.030 GeneticVariation BEFREE Therefore, our results show that the family presents with familial hypercholesterolemia and give evidence that the R3531C substitution in the APOB gene is not an allelic variant leading to FDB. 11031227

2000
dbSNP: rs12720762
rs12720762
APOB
0.010 GeneticVariation BEFREE SNP rs12720762 in APOB gene is associated with the highest risk of FH (odds ratio 14.78, p<0.001). 23593297

2013
dbSNP: rs1339117465
rs1339117465
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1382988295
rs1382988295
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1382988295
rs1382988295
APOB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1418775778
rs1418775778
APOB
T 0.700 CausalMutation CLINVAR

dbSNP: rs142017360
rs142017360
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1442815965
rs1442815965
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. 22353362

2012
dbSNP: rs144467873
rs144467873
APOB
A 0.700 CausalMutation CLINVAR Child-Parent Familial Hypercholesterolemia Screening in Primary Care. 27783906

2016
dbSNP: rs146377316
rs146377316
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs151009667
rs151009667
APOB
0.010 GeneticVariation BEFREE There was also no correlation between clinical characteristics and the rs151009667 polymorphism.In conclusion, we confirmed the association between the rs151009667 polymorphism and FH in a Saudi population. 30681615

2019
dbSNP: rs1553382295
rs1553382295
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553382300
rs1553382300
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553382319
rs1553382319
APOB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553382325
rs1553382325
APOB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553382326
rs1553382326
APOB
A 0.700 CausalMutation CLINVAR