rs2167270
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0.79x reduced risk for colon cancer | |
| (A;G) | 0 | normal |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 128241296 |
| Gene | LEP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2167270 |
| dbSNP (classic) | rs2167270 |
| ClinGen | rs2167270 |
| ebi | rs2167270 |
| HLI | rs2167270 |
| Exac | rs2167270 |
| Gnomad | rs2167270 |
| Varsome | rs2167270 |
| LitVar | rs2167270 |
| Map | rs2167270 |
| PheGenI | rs2167270 |
| Biobank | rs2167270 |
| 1000 genomes | rs2167270 |
| hgdp | rs2167270 |
| ensembl | rs2167270 |
| geneview | rs2167270 |
| scholar | rs2167270 |
| rs2167270 | |
| pharmgkb | rs2167270 |
| gwascentral | rs2167270 |
| openSNP | rs2167270 |
| 23andMe | rs2167270 |
| SNPshot | rs2167270 |
| SNPdbe | rs2167270 |
| MSV3d | rs2167270 |
| GWAS Ctlg | rs2167270 |
| GMAF | 0.3503 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2167270 is a SNP in the leptin LEP gene.
In a study of ~1,500 colon cancer patients, the rs2167270(A;A) genotype was underrepresented, leading to an odds ratio of 0.79 (CI: 0.64-0.98).[PMID 18059035
]
[PMID 20140086] Genetic Variation at Selected SNPs in the Leptin Gene and Association of Alleles with Markers of Kidney Disease in a Xhosa Population of South Africa
[PMID 21512510] The Effect of Ponderal Index at Birth on the Relationships Between Common LEP and LEPR Polymorphisms and Adiposity in Adolescents
[PMID 22666399] Tumor Necrosis Factor-α Induced Protein 8 Polymorphism and Risk of Non-Hodgkin's Lymphoma in a Chinese Population: A Case-Control Study
[PMID 15197684] Common variants in the 5' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study.
[PMID 19035456] Adipokine genes and prostate cancer risk.
[PMID 19204185] Leptin is associated with blood pressure and hypertension in women from the National Heart, Lung, and Blood Institute Family Heart Study.
[PMID 19593725] Association of maternally inherited GNAS alleles with African-American male birth weight.
[PMID 21385539] Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease susceptibility and cardiovascular disease in patients with rheumatoid arthritis.
[PMID 23840460] Lymphotoxin Alpha (LTA) Polymorphism Is Associated with Prognosis of Non-Hodgkin's Lymphoma in a Chinese Population
[PMID 22537818] Polymorphisms in adiposity-related genes are associated with age at menarche and menopause in breast cancer patients and healthy women.
[PMID 22975643] Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training.
[PMID 24845032] Association of LEP A19G polymorphism with cancer risk: a systematic review and pooled analysis
[PMID 25810718] Polymorphism in LEP and LEPR May Modify Leptin Levels and Represent Risk Factors for Thyroid Cancer
[PMID 26167411] Genetic variants in leptin: Determinants of obesity and leptin levels in South Indian population
| ClinVar | |
|---|---|
| Risk | Rs2167270(A;A) |
| Alt | Rs2167270(A;A) |
| Reference | Rs2167270(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Leptin deficiency or dysfunction Monogenic Non-Syndromic Obesity |
| Variation | info |
| Gene | LEP |
| CLNDBN | Leptin deficiency or dysfunction Monogenic Non-Syndromic Obesity |
| Reversed | 0 |
| HGVS | NC_000007.13:g.127881349G>A |
| CLNSRC | |
| CLNACC | RCV000329981.1, RCV000375354.1, |
[PMID 31038568] Adipokine gene variability and plasma levels in patients with chronic periodontitis -a case-control study.
[PMID 32004678] Associations of maternal diet and placenta leptin methylation.
[PMID 32774722] Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: a case-control study involving 2,306 subjects.
