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Variants within “monogenic diabetes” genes associated with T2DM—either identified or confirmed by large scale association studies
| Locus | Chromosome | Monogenic phenotype | T2DM-associated variant |
|---|---|---|---|
| PPARG | 3 | Insulin resistance syndrome | Pro12Ala |
| KCNJ11 | 11 | PNMD, TNDM, MODY | Glu23Lys |
| ABCC8 | 11 | PNMD, TNDM, MODY | Ala369Ser |
| HNF1B | 17 | HNF1B MODY | rs3110641 |
| WFS1 | 4 | Wolfram syndrome | rs10010131, rs6446482 |
| HNF1A | 12 | HNF1A MODY | rs7957197 |
| GCK | 7 | GCK MODY, PNDM | rs1799884 |
