rs1433099
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1433099(A;G) |
| Make rs1433099(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11131982 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1433099 |
| dbSNP (classic) | rs1433099 |
| ClinGen | rs1433099 |
| ebi | rs1433099 |
| HLI | rs1433099 |
| Exac | rs1433099 |
| Gnomad | rs1433099 |
| Varsome | rs1433099 |
| LitVar | rs1433099 |
| Map | rs1433099 |
| PheGenI | rs1433099 |
| Biobank | rs1433099 |
| 1000 genomes | rs1433099 |
| hgdp | rs1433099 |
| ensembl | rs1433099 |
| geneview | rs1433099 |
| scholar | rs1433099 |
| rs1433099 | |
| pharmgkb | rs1433099 |
| gwascentral | rs1433099 |
| openSNP | rs1433099 |
| 23andMe | rs1433099 |
| SNPshot | rs1433099 |
| SNPdbe | rs1433099 |
| MSV3d | rs1433099 |
| GWAS Ctlg | rs1433099 |
| GMAF | 0.3416 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23050023
] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals
[PMID 15500681] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
[PMID 17239995] Genetic study evaluating LDLR polymorphisms and Alzheimer's disease.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19087220] Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.
[PMID 20031563] Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
| ClinVar | |
|---|---|
| Risk | rs1433099(G;G) |
| Alt | rs1433099(G;G) |
| Reference | Rs1433099(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 1 |
| HGVS | NC_000019.9:g.11242658T>C |
| CLNSRC | |
| CLNACC | RCV000346475.1, |
[PMID 32698935] A Western-style diet interacts with genetic variants of the LDL receptor to hyper-LDL cholesterolemia in Korean adults.
