rs1059611
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1059611(C;C) |
| Make rs1059611(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 19967052 |
| Gene | LPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1059611 |
| dbSNP (classic) | rs1059611 |
| ClinGen | rs1059611 |
| ebi | rs1059611 |
| HLI | rs1059611 |
| Exac | rs1059611 |
| Gnomad | rs1059611 |
| Varsome | rs1059611 |
| LitVar | rs1059611 |
| Map | rs1059611 |
| PheGenI | rs1059611 |
| Biobank | rs1059611 |
| 1000 genomes | rs1059611 |
| hgdp | rs1059611 |
| ensembl | rs1059611 |
| geneview | rs1059611 |
| scholar | rs1059611 |
| rs1059611 | |
| pharmgkb | rs1059611 |
| gwascentral | rs1059611 |
| openSNP | rs1059611 |
| 23andMe | rs1059611 |
| SNPshot | rs1059611 |
| SNPdbe | rs1059611 |
| MSV3d | rs1059611 |
| GWAS Ctlg | rs1059611 |
| GMAF | 0.1235 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23735640] Lipoprotein lipase gene polymorphism rs1059611 functionally influences serum lipid concentrations
[PMID 19148283
] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
[PMID 21840003] Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism.
| GWAS snp | |
|---|---|
| PMID | [PMID 19936222 |
| Trait | Lipid metabolism phenotypes |
| Title | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Risk Allele | |
| P-val | 2E-17 |
| Odds Ratio | .07 [NR] unit decrease |
| ClinVar | |
|---|---|
| Risk | rs1059611(C;C) |
| Alt | rs1059611(C;C) |
| Reference | Rs1059611(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Hyperlipoproteinemia |
| Variation | info |
| Gene | LPL |
| CLNDBN | Hyperlipoproteinemia, type I |
| Reversed | 0 |
| HGVS | NC_000008.10:g.19824563T>C |
| CLNSRC | |
| CLNACC | RCV000277765.1, |
