PPARG
peroxisome proliferator activated receptor gamma
Summary
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants227 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2920502 | 3:12,329,195 | G/C | regulatory region variant | — |
| rs183181489 | 3:12,329,279 | T/A | — | — |
| rs17029006 | 3:12,329,452 | C/T | regulatory region variant | — |
| rs17036170 | 3:12,330,411 | G/A | regulatory region variant | — |
| rs2972164 | 3:12,334,416 | T/C | intron variant | — |
| rs2920504 | 3:12,335,212 | A/T | — | — |
| rs6809631 | 3:12,335,647 | A/T | intron variant | — |
| rs4684846 | 3:12,338,849 | A/G | intron variant | — |
| rs9817428 | 3:12,340,267 | C/G | — | — |
| rs17036188 | 3:12,340,925 | T/C | intron variant | — |
| rs12631028 | 3:12,341,406 | C/T | intron variant | — |
| rs74833298 | 3:12,343,549 | C/A | intron variant | — |
| rs10510411 | 3:12,346,849 | G/A | intron variant | — |
| rs545514902 | 3:12,347,670 | C/T | — | — |
| rs12629293 | 3:12,351,746 | A/G | intron variant | — |
| rs11719186 | 3:12,352,605 | T/C | — | — |
| rs11719187 | 3:12,352,606 | T/A | intron variant | — |
| rs10865710 | 3:12,353,198 | C/T | — | — |
| rs13073869 | 3:12,353,993 | G/C | — | — |
| rs78378117 | 3:12,357,419 | T/G | intron variant | — |
| rs6776454 | 3:12,357,932 | C/A | — | — |
| rs12636454 | 3:12,360,214 | T/C | intron variant | — |
| rs12631322 | 3:12,364,413 | A/G | intron variant | — |
| rs12496005 | 3:12,371,082 | G/C | downstream gene variant | — |
| rs117350179 | 3:12,374,332 | C/T | — | — |
| rs76608844 | 3:12,375,580 | C/A | — | — |
| rs1984669 | 3:12,375,744 | C/T | intron variant | — |
| rs2012444 | 3:12,375,956 | C/T | intron variant | — |
| rs3885307 | 3:12,376,414 | A/T | — | — |
| rs79644791 | 3:12,376,427 | A/G | intron variant | — |
| rs17036314 | 3:12,376,745 | G/C | intron variant | — |
| rs35240997 | 3:12,379,351 | A/G | intron variant | — |
| rs28684849 | 3:12,379,908 | G/T | intron variant | — |
| rs13085211 | 3:12,383,265 | G/A | intron variant | — |
| rs3963364 | 3:12,385,357 | C/T | — | — |
| rs11128603 | 3:12,385,828 | A/G | intron variant | — |
| rs4684847 | 3:12,386,337 | C/T | intron variant | — |
| rs7610055 | 3:12,388,409 | G/A | upstream gene variant | — |
| rs6802898 | 3:12,391,207 | C/T | upstream gene variant | — |
| rs1553638903 | 3:12,391,303 | A/G | — | association |
| rs1553638909 | 3:12,391,323 | A/T | — | association |
| rs2197423 | 3:12,391,583 | G/A | regulatory region variant | — |
| rs7649970 | 3:12,392,272 | C/T | regulatory region variant | — |
| rs948820149 | 3:12,392,285 | A/C | — | association |
| rs200479885 | 3:12,393,070 | C/T | — | likely benign |
| rs2048487894 | 3:12,393,099 | A/G | — | uncertain significance |
| rs1329838398 | 3:12,393,124 | C/T | — | benign |
| rs1801282 | 3:12,393,125 | C/G | missense variant | likely benign |
| rs1294325666 | 3:12,393,145 | T/C | — | likely benign |
| rs756794860 | 3:12,393,177 | A/C | — | uncertain significance |
| rs367903978 | 3:12,393,189 | G/T | — | likely benign |
| rs17036342 | 3:12,393,682 | A/G | intron variant | — |
| rs1899951 | 3:12,394,840 | C/T | intron variant | — |
| rs4135247 | 3:12,396,588 | G/T | — | — |
| rs4135250 | 3:12,396,845 | A/G | intron variant | — |
| rs115840873 | 3:12,402,362 | G/A | intron variant | — |
| rs9858822 | 3:12,411,238 | A/C | intron variant | — |
| rs28763893 | 3:12,421,089 | C/T | — | benign |
| rs371713160 | 3:12,421,189 | A/G | intron variant | likely benign |
| rs1805192 | 3:12,421,238 | C/G | missense variant | benign |
| rs143370807 | 3:12,421,253 | A/T | — | likely benign |
| rs762280243 | 3:12,421,266 | A/C | — | uncertain significance |
| rs138038967 | 3:12,421,267 | T/G | — | uncertain significance |
| rs150513215 | 3:12,421,273 | C/T | — | likely benign |
| rs149324518 | 3:12,421,274 | G/A | — | likely benign |
| rs2049564404 | 3:12,421,283 | G/A | — | uncertain significance |
| rs1187225480 | 3:12,421,288 | C/G | — | uncertain significance |
| rs753619817 | 3:12,421,309 | G/A | — | likely benign |
| rs372004998 | 3:12,421,342 | T/A | — | likely benign |
| rs201978569 | 3:12,421,343 | A/G | — | likely benign |
| rs777334819 | 3:12,421,355 | G/A | — | conflicting classifications of pathogenicity |
| rs112174008 | 3:12,421,360 | C/T | — | conflicting classifications of pathogenicity |
| rs375156001 | 3:12,421,370 | A/C | — | uncertain significance |
| rs140915035 | 3:12,421,391 | G/A | — | uncertain significance |
| rs753817211 | 3:12,421,408 | C/T | — | uncertain significance |
| rs778721235 | 3:12,421,420 | A/G | — | likely benign |
| rs747071642 | 3:12,421,445 | T/C | — | likely benign |
| rs531436395 | 3:12,422,843 | A/G | — | likely benign |
| rs1800571 | 3:12,422,848 | C/A | missense variant | pathogenic |
| rs2470895197 | 3:12,422,858 | T/G | — | pathogenic |
| rs2470895321 | 3:12,422,868 | A/T | — | uncertain significance |
| rs2049650320 | 3:12,422,873 | G/A | — | likely benign |
| rs1261231626 | 3:12,422,905 | A/C | — | uncertain significance |
| rs2049653967 | 3:12,422,912 | C/G | — | likely benign |
| rs1193598966 | 3:12,422,915 | G/C | — | uncertain significance |
| rs773089349 | 3:12,422,929 | G/A | — | uncertain significance |
| rs762777341 | 3:12,422,931 | G/A | — | uncertain significance |
| rs147975759 | 3:12,422,948 | T/C | — | conflicting classifications of pathogenicity |
| rs2125177235 | 3:12,422,953 | G/A | — | likely pathogenic |
| rs2470896320 | 3:12,422,959 | A/G | — | uncertain significance |
| rs1354592503 | 3:12,422,962 | A/G | — | pathogenic |
| rs1553643326 | 3:12,422,980 | A/G | — | likely pathogenic |
| rs2470896621 | 3:12,422,989 | A/T | — | uncertain significance |
| rs752761839 | 3:12,422,997 | A/T | — | likely benign |
| rs4135324 | 3:12,423,113 | G/C | — | benign |
| rs4135263 | 3:12,423,266 | T/C | — | benign |
| rs4135332 | 3:12,434,070 | G/C | — | benign |
| rs377655854 | 3:12,434,104 | C/T | — | likely benign |
| rs750775821 | 3:12,434,107 | T/C | — | likely benign |
| rs370830238 | 3:12,434,110 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 227 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.