|
rs879254522
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of six uncharacterised mutations in LDLR gene.
|
31689621 |
2019 |
|
rs143394031
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We demonstrated that p.(Arg499His) PCSK9 variant causes a direct intracellular degradation of LDLr therefore causing FH by reducing LDLr availability.
|
31518966 |
2019 |
|
rs10455872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the LPA variant rs10455872 is a good predictor of premature CVD risk in FH.
|
31103339 |
2019 |
|
rs2048327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we demonstrated that the rs2048327 SNP of the SLC22A3 gene was significantly associated with Lp(a) as well as with CVD events in FH subjects.
|
30772277 |
2019 |
|
rs13306505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, the allele frequency of the A860V variant (0.0062/0.0095) in the Japanese population, as indicated by 2 databases, was higher than expected based on the prevalence of heterozygous FH in the Japanese population (0.002-0.005).
|
30745271 |
2020 |
|
rs151009667
|
|
|
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 |
|
rs373646964
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction.
|
30586733 |
2019 |
|
rs515135
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls.
|
30507093 |
2019 |
|
rs693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this case-control study, rs693 (in exon 26 of APOB) and rs515135 (5 'end of APOB) single nucleotide polymorphisms (SNPs) were analyzed in 120 cases of familial hypercholesterolemia and 120 controls.
|
30507093 |
2019 |
|
rs376459828
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
|
30293936 |
2019 |
|
rs879254518
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation.
|
30270082 |
2018 |
|
rs879254678
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation.
|
30270082 |
2018 |
|
rs12526453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we have shown that the rs12526453 single-nucleotide polymorphism of the PHACTR1 gene is significantly associated with a 50% reduction in the odds of CAD events in FH subjects.
|
29784573 |
2019 |
|
rs773658037
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Our results suggest that sEH R287Q</span> may have a role in the elevation of blood LDL in FH.
|
29665449 |
2018 |
|
rs193922566
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
|
29576406 |
2019 |
|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We have hypothesized that transgenic Ossabaw swine expressing chimp <i>PCSK9</i> (proprotein convertase subtilisin-like/kexin type 9) containing the D374Y gain of function would develop familial hypercholesterolemia and coronary artery plaques more rapidly than Landrace swine with the same transgene.
|
29572319 |
2018 |
|
rs730882109
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
|
29233637 |
2019 |
|
rs879254552
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
|
29233637 |
2019 |
|
rs879254952
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.
|
29213121 |
2017 |
|
rs879254753
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
|
28932795 |
2015 |
|
rs137852912
|
|
|
0.740 |
GeneticVariation |
BEFREE |
PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.
|
28777095 |
2017 |
|
rs374603772
|
|
|
0.710 |
GeneticVariation |
BEFREE |
This is the first study from a Turkish FH cohort, revealing a higher frequency (approximately 14%) of two PCSK9 GOF mutations (D374Y and R496W) and a different disease course compared to the world literature.
|
28777095 |
2017 |
|
rs879254457
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.
|
28502510 |
2018 |
|
rs1333047
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 9p21.3 SNP rs1333047 SNP was associated with increased ASCVD in FH subjects.
|
28502497 |
2018 |
|
rs879254867
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
|
28458923 |
2017 |