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, |