rs1805134
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1805134(C;C) |
| Make rs1805134(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 65601426 |
| Gene | LEPR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805134 |
| dbSNP (classic) | rs1805134 |
| ClinGen | rs1805134 |
| ebi | rs1805134 |
| HLI | rs1805134 |
| Exac | rs1805134 |
| Gnomad | rs1805134 |
| Varsome | rs1805134 |
| LitVar | rs1805134 |
| Map | rs1805134 |
| PheGenI | rs1805134 |
| Biobank | rs1805134 |
| 1000 genomes | rs1805134 |
| hgdp | rs1805134 |
| ensembl | rs1805134 |
| geneview | rs1805134 |
| scholar | rs1805134 |
| rs1805134 | |
| pharmgkb | rs1805134 |
| gwascentral | rs1805134 |
| openSNP | rs1805134 |
| 23andMe | rs1805134 |
| SNPshot | rs1805134 |
| SNPdbe | rs1805134 |
| MSV3d | rs1805134 |
| GWAS Ctlg | rs1805134 |
| Merged from | Rs3790419 |
| GMAF | 0.1919 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | |
|---|---|---|
|
| ||
[PMID 18212354
] Genes in glucose metabolism and association with spina bifida.
[PMID 19077438
] Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
[PMID 20032477] Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults.
[PMID 20416077
] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 21204206
] Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
| ClinVar | |
|---|---|
| Risk | rs1805134(C;C) |
| Alt | rs1805134(C;C) |
| Reference | Rs1805134(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | Monogenic Non-Syndromic Obesity Leptin receptor deficiency |
| Variation | info |
| Gene | LEPR LEPROT |
| CLNDBN | Monogenic Non-Syndromic Obesity Leptin receptor deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.66067109T>C |
| CLNSRC | |
| CLNACC | RCV000288988.1, RCV000346307.1, |
