rs12325817
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| Make rs12325817(C;G) |
| Make rs12325817(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17583205 |
| Gene | PEMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12325817 |
| dbSNP (classic) | rs12325817 |
| ClinGen | rs12325817 |
| ebi | rs12325817 |
| HLI | rs12325817 |
| Exac | rs12325817 |
| Gnomad | rs12325817 |
| Varsome | rs12325817 |
| LitVar | rs12325817 |
| Map | rs12325817 |
| PheGenI | rs12325817 |
| Biobank | rs12325817 |
| 1000 genomes | rs12325817 |
| hgdp | rs12325817 |
| ensembl | rs12325817 |
| geneview | rs12325817 |
| scholar | rs12325817 |
| rs12325817 | |
| pharmgkb | rs12325817 |
| gwascentral | rs12325817 |
| openSNP | rs12325817 |
| 23andMe | rs12325817 |
| SNPshot | rs12325817 |
| SNPdbe | rs12325817 |
| MSV3d | rs12325817 |
| GWAS Ctlg | rs12325817 |
| GMAF | 0.2883 |
| Max Magnitude | 0 |
[PMID 20662904] Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts
[PMID 21059658
] Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction
[PMID 21411618] Docosahexaenoic acid in plasma phosphatidylcholine may be a potential marker for in vivo phosphatidylethanolamine N-methyltransferase activity in humans
[PMID 16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline.
[PMID 17613168] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
[PMID 17616785] Lymphocyte gene expression in subjects fed a low-choline diet differs between those who develop organ dysfunction and those who do not.
[PMID 18230680] Choline metabolism and risk of breast cancer in a population-based study.
[PMID 18789905] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
[PMID 19116320] Importance of methyl donors during reproduction.
[PMID 19167960] Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.
[PMID 19261726] Epigenetic mechanisms for nutrition determinants of later health outcomes.
[PMID 20861172] Dietary choline requirements of women: effects of estrogen and genetic variation.
[PMID 23794489] Higher homocysteine and lower betaine increase the risk of microangiopathy in patients with diabetes mellitus carrying the GG genotype of PEMT G774C.
[PMID 25921832] Evidence for negative selection of gene variants that increase dependence on dietary choline in a Gambian cohort
