rs2233580
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 1.5 | Reported to slightly increase (1.5x) risk for T2D in Asians |
| Make rs2233580(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 127613496 |
| Gene | PAX4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2233580 |
| dbSNP (classic) | rs2233580 |
| ClinGen | rs2233580 |
| ebi | rs2233580 |
| HLI | rs2233580 |
| Exac | rs2233580 |
| Gnomad | rs2233580 |
| Varsome | rs2233580 |
| LitVar | rs2233580 |
| Map | rs2233580 |
| PheGenI | rs2233580 |
| Biobank | rs2233580 |
| 1000 genomes | rs2233580 |
| hgdp | rs2233580 |
| ensembl | rs2233580 |
| geneview | rs2233580 |
| scholar | rs2233580 |
| rs2233580 | |
| pharmgkb | rs2233580 |
| gwascentral | rs2233580 |
| openSNP | rs2233580 |
| 23andMe | rs2233580 |
| SNPshot | rs2233580 |
| SNPdbe | rs2233580 |
| MSV3d | rs2233580 |
| GWAS Ctlg | rs2233580 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 27398621
] Single-variant testing of ~12,000 patients with exome and WGS data from type-2 diabetes patients yielded only a single significant result, (PAX4 p.Arg192His or c.575G>A, a.k.a. rs2233580) that was only observed in East Asian individuals. Blog post about this here.
[PMID 29941447] A GWAS of ~1000 East Asians (Koreans) concluded that the PAX4 Arg192His variant increased risk for type-2 diabetes (OR 1.48, p = 4.47 × 10e-16).
| ClinVar | |
|---|---|
| Risk | rs2233580(A;A) |
| Alt | rs2233580(A;A) |
| Reference | Rs2233580(G;G) |
| Significance | Other |
| Disease | not specified Maturity-onset diabetes of the young |
| Variation | info |
| Gene | PAX4 |
| CLNDBN | not specified Maturity-onset diabetes of the young |
| Reversed | 1 |
| HGVS | NC_000007.13:g.127253550C>T |
| CLNSRC | |
| CLNACC | RCV000117893.3, RCV000277989.1, |
