rs705379
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | lowest arylesterase activity | |
| (A;G) | intermediate arylesterase activity | |
| (G;G) | highest arylesterase activity |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 95324583 |
| Gene | PON1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs705379 |
| dbSNP (classic) | rs705379 |
| ClinGen | rs705379 |
| ebi | rs705379 |
| HLI | rs705379 |
| Exac | rs705379 |
| Gnomad | rs705379 |
| Varsome | rs705379 |
| LitVar | rs705379 |
| Map | rs705379 |
| PheGenI | rs705379 |
| Biobank | rs705379 |
| 1000 genomes | rs705379 |
| hgdp | rs705379 |
| ensembl | rs705379 |
| geneview | rs705379 |
| scholar | rs705379 |
| rs705379 | |
| pharmgkb | rs705379 |
| gwascentral | rs705379 |
| openSNP | rs705379 |
| 23andMe | rs705379 |
| SNPshot | rs705379 |
| SNPdbe | rs705379 |
| MSV3d | rs705379 |
| GWAS Ctlg | rs705379 |
| GMAF | 0.3815 |
| Max Magnitude | 0 |
rs705379, also known as -108C/T or -107C/T, is a SNP in the PON1 paraoxonase 1 gene.
[PMID 11335891
] Variation in the amount of PON1 activity has been reported to primarily involve this SNP, with the following average values of aryesterase activity reported per genotype (sample no. in parentheses):
GG (94) 125.8 ± 45.6
AG (188) 102.9 ± 37.6
AA (94) 68.6 ± 27.9
[PMID 20488557] Decreased serum arylesterase activity in autism spectrum disorders
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19321847] A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.
[PMID 19401444] Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism.
[PMID 20056567] Childhood brain tumors, residential insecticide exposure, and pesticide metabolism genes.
[PMID 21223581] Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus.
[PMID 21543280] Relation between methylmercury exposure and plasma paraoxonase activity in inuit adults from Nunavik.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23167629] Common genetic variants in the myeloperoxidase and paraoxonase genes and the related cancer risk: a review
[PMID 24448003] Methylmercury exposure, PON1 gene variants and serum paraoxonase activity in Eastern James Bay Cree adults
[PMID 22854640] Paraoxonase 1 (PON1) C/T-108 association with longitudinal mean arterial blood pressure.
[PMID 22956172] Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD).
| ClinVar | |
|---|---|
| Risk | Rs705379(A;A) |
| Alt | Rs705379(A;A) |
| Reference | Rs705379(G;G) |
| Significance | Other |
| Disease | Enzyme activity finding |
| Variation | info |
| Gene | PON1 |
| CLNDBN | Enzyme activity finding |
| Reversed | 0 |
| HGVS | NC_000007.13:g.94953895G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000133466.2, |
