rs137852783
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common on affy axiom data |
| Make rs137852783(A;A) |
| Make rs137852783(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 27920364 |
| Gene | PDX1, PDX1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852783 |
| dbSNP (classic) | rs137852783 |
| ClinGen | rs137852783 |
| ebi | rs137852783 |
| HLI | rs137852783 |
| Exac | rs137852783 |
| Gnomad | rs137852783 |
| Varsome | rs137852783 |
| LitVar | rs137852783 |
| Map | rs137852783 |
| PheGenI | rs137852783 |
| Biobank | rs137852783 |
| 1000 genomes | rs137852783 |
| hgdp | rs137852783 |
| ensembl | rs137852783 |
| geneview | rs137852783 |
| scholar | rs137852783 |
| rs137852783 | |
| pharmgkb | rs137852783 |
| gwascentral | rs137852783 |
| openSNP | rs137852783 |
| 23andMe | rs137852783 |
| SNPshot | rs137852783 |
| SNPdbe | rs137852783 |
| MSV3d | rs137852783 |
| GWAS Ctlg | rs137852783 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852783(A;A) |
| Alt | rs137852783(A;A) |
| Reference | Rs137852783(G;G) |
| Significance | Other |
| Disease | DIABETES MELLITUS Maturity-onset diabetes of the young not specified Monogenic diabetes |
| Variation | info |
| Gene | PDX1-AS1 PDX1 |
| CLNDBN | DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO Maturity-onset diabetes of the young, type 4 not specified Monogenic diabetes |
| Reversed | 0 |
| HGVS | NC_000013.10:g.28494501G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009409.3, RCV000030077.2, RCV000246150.2, RCV000445407.1, |
[PMID 11270
] Active H+ transport in the turtle urinary bladder. Coupling of transport to glucose oxidation.
[PMID 10545530] Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
[PMID 10545531] Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.
[PMID 10720084] Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.
[PMID 11022198] Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.
[PMID 15170499] Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes.
