Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
23169 | single nucleotide variant | NM_138712.3(PPARG):c.254C>A (p.Pro85Gln) | 1800571 | MedGen:C0028756,SNOMED CT:C0028756 | 3 | 12422848 | 12422848 | C | A |
23169 | single nucleotide variant | NM_138712.3(PPARG):c.254C>A (p.Pro85Gln) | 1800571 | MedGen:C0028756,SNOMED CT:C0028756 | 3 | 12381349 | 12381349 | C | A |
23170 | single nucleotide variant | NM_138712.3(PPARG):c.34C>G (p.Pro12Ala) | 1805192 | - | 3 | 12421238 | 12421238 | C | G |
23170 | single nucleotide variant | NM_138712.3(PPARG):c.34C>G (p.Pro12Ala) | 1805192 | - | 3 | 12379739 | 12379739 | C | G |
23171 | deletion | NM_138712.3(PPARG):c.472delA (p.Ser158Valfs) | 587776687 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12434188 | 12434188 | A | - |
23171 | deletion | NM_138712.3(PPARG):c.472delA (p.Ser158Valfs) | 587776687 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12392689 | 12392689 | A | - |
23172 | single nucleotide variant | NM_138712.3(PPARG):c.857A>C (p.Gln286Pro) | 121909242 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12458324 | 12458324 | A | C |
23172 | single nucleotide variant | NM_138712.3(PPARG):c.857A>C (p.Gln286Pro) | 121909242 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12416825 | 12416825 | A | C |
23173 | single nucleotide variant | NM_138712.3(PPARG):c.955A>T (p.Lys319Ter) | 121909243 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12458422 | 12458422 | A | T |
23173 | single nucleotide variant | NM_138712.3(PPARG):c.955A>T (p.Lys319Ter) | 121909243 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12416923 | 12416923 | A | T |
23174 | single nucleotide variant | NM_138712.3(PPARG):c.863G>A (p.Arg288His) | 28936407 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12458330 | 12458330 | G | A |
23174 | single nucleotide variant | NM_138712.3(PPARG):c.863G>A (p.Arg288His) | 28936407 | MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 | 3 | 12416831 | 12416831 | G | A |
23175 | single nucleotide variant | NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) | 121909244 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12475610 | 12475610 | C | T |
23175 | single nucleotide variant | NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) | 121909244 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12434111 | 12434111 | C | T |
23176 | single nucleotide variant | NM_138712.3(PPARG):c.868G>A (p.Val290Met) | 72551362 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12458335 | 12458335 | G | A |
23176 | single nucleotide variant | NM_138712.3(PPARG):c.868G>A (p.Val290Met) | 72551362 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12416836 | 12416836 | G | A |
23177 | single nucleotide variant | PPARG, 161C-T | -1 | - | na | -1 | -1 | na | na |
23178 | single nucleotide variant | NM_015869.4(PPARG):c.1431C>T (p.His477=) | 3856806 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C2750850,OMIM:137800;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN169374 | 3 | 12475557 | 12475557 | C | T |
23178 | single nucleotide variant | NM_015869.4(PPARG):c.1431C>T (p.His477=) | 3856806 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C2750850,OMIM:137800;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN169374 | 3 | 12434058 | 12434058 | C | T |
23179 | indel | PPARG, 3-BP DEL/1-BP INS, NT553 | -1 | MedGen:CN069127;MedGen:C4017629 | na | -1 | -1 | na | na |
23180 | single nucleotide variant | NM_138712.3(PPARG):c.1080T>A (p.Phe360Leu) | 72551363 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12458547 | 12458547 | T | A |
23180 | single nucleotide variant | NM_138712.3(PPARG):c.1080T>A (p.Phe360Leu) | 72551363 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12417048 | 12417048 | T | A |
23181 | single nucleotide variant | NM_138712.3(PPARG):c.1189C>T (p.Arg397Cys) | 72551364 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12475399 | 12475399 | C | T |
23181 | single nucleotide variant | NM_138712.3(PPARG):c.1189C>T (p.Arg397Cys) | 72551364 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12433900 | 12433900 | C | T |
23182 | single nucleotide variant | NM_138712.3(PPARG):c.484T>A (p.Cys162Ser) | 121909245 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12434200 | 12434200 | T | A |
23182 | single nucleotide variant | NM_138712.3(PPARG):c.484T>A (p.Cys162Ser) | 121909245 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12392701 | 12392701 | T | A |
23183 | single nucleotide variant | NM_138712.3(PPARG):c.496C>T (p.Arg166Trp) | 121909246 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12434212 | 12434212 | C | T |
23183 | single nucleotide variant | NM_138712.3(PPARG):c.496C>T (p.Arg166Trp) | 121909246 | MedGen:C1720861,OMIM:604367,Orphanet:ORPHA79083 | 3 | 12392713 | 12392713 | C | T |
135464 | single nucleotide variant | NM_015869.4(PPARG):c.1348A>C (p.Lys450Gln) | 587780424 | MedGen:CN221809 | 3 | 12475474 | 12475474 | A | C |
135464 | single nucleotide variant | NM_015869.4(PPARG):c.1348A>C (p.Lys450Gln) | 587780424 | MedGen:CN221809 | 3 | 12433975 | 12433975 | A | C |
135465 | single nucleotide variant | NM_015869.4(PPARG):c.34C>G (p.Pro12Ala) | 1801282 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN169374 | 3 | 12351626 | 12351626 | C | G |
135465 | single nucleotide variant | NM_015869.4(PPARG):c.34C>G (p.Pro12Ala) | 1801282 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754;MedGen:CN169374 | 3 | 12393125 | 12393125 | C | G |
207033 | single nucleotide variant | NM_015869.4(PPARG):c.669G>A (p.Ala223=) | 751812338 | MedGen:CN169374 | 3 | 12405931 | 12405931 | G | A |
207033 | single nucleotide variant | NM_015869.4(PPARG):c.669G>A (p.Ala223=) | 751812338 | MedGen:CN169374 | 3 | 12447430 | 12447430 | G | A |
288404 | single nucleotide variant | NM_015869.4(PPARG):c.240C>T (p.Asp80=) | 112174008 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12421360 | 12421360 | C | T |
288404 | single nucleotide variant | NM_015869.4(PPARG):c.240C>T (p.Asp80=) | 112174008 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12379861 | 12379861 | C | T |
288413 | single nucleotide variant | NM_015869.4(PPARG):c.288C>T (p.Asp96=) | 753817211 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12379909 | 12379909 | C | T |
288413 | single nucleotide variant | NM_015869.4(PPARG):c.288C>T (p.Asp96=) | 753817211 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12421408 | 12421408 | C | T |
288431 | single nucleotide variant | NM_015869.4(PPARG):c.507G>A (p.Leu169=) | 41415646 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12392640 | 12392640 | G | A |
288431 | single nucleotide variant | NM_015869.4(PPARG):c.507G>A (p.Leu169=) | 41415646 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12434139 | 12434139 | G | A |
288432 | single nucleotide variant | NM_015869.4(PPARG):c.1206C>A (p.Phe402Leu) | 886057902 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12417090 | 12417090 | C | A |
288432 | single nucleotide variant | NM_015869.4(PPARG):c.1206C>A (p.Phe402Leu) | 886057902 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12458589 | 12458589 | C | A |
289177 | single nucleotide variant | NM_015869.4(PPARG):c.481-3C>T | 370830238 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12392611 | 12392611 | C | T |
289177 | single nucleotide variant | NM_015869.4(PPARG):c.481-3C>T | 370830238 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12434110 | 12434110 | C | T |
292190 | single nucleotide variant | NM_015869.4(PPARG):c.-22C>T | 200479885 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12351571 | 12351571 | C | T |
292190 | single nucleotide variant | NM_015869.4(PPARG):c.-22C>T | 200479885 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12393070 | 12393070 | C | T |
292296 | single nucleotide variant | NM_015869.4(PPARG):c.438T>C (p.Ala146=) | 147975759 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12422948 | 12422948 | T | C |
292296 | single nucleotide variant | NM_015869.4(PPARG):c.438T>C (p.Ala146=) | 147975759 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12381449 | 12381449 | T | C |
292303 | single nucleotide variant | NM_015869.4(PPARG):c.891C>G (p.Pro297=) | 13306747 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12416775 | 12416775 | C | G |
292303 | single nucleotide variant | NM_015869.4(PPARG):c.891C>G (p.Pro297=) | 13306747 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12458274 | 12458274 | C | G |
292305 | single nucleotide variant | NM_015869.4(PPARG):c.1371A>G (p.Ser457=) | 41516544 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12433998 | 12433998 | A | G |
292305 | single nucleotide variant | NM_015869.4(PPARG):c.1371A>G (p.Ser457=) | 41516544 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12475497 | 12475497 | A | G |
292306 | single nucleotide variant | NM_015869.4(PPARG):c.1452C>T (p.Ile484=) | 149367249 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12434079 | 12434079 | C | T |
292306 | single nucleotide variant | NM_015869.4(PPARG):c.1452C>T (p.Ile484=) | 149367249 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12475578 | 12475578 | C | T |
292310 | single nucleotide variant | NM_015869.4(PPARG):c.1509C>T (p.Asp503=) | 886057903 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12434136 | 12434136 | C | T |
292310 | single nucleotide variant | NM_015869.4(PPARG):c.1509C>T (p.Asp503=) | 886057903 | MedGen:CN069127;MedGen:C0271694,Orphanet:ORPHA98306,SNOMED CT:C0271694;MedGen:C0028754,OMIM:601665,Orphanet:ORPHA71529,SNOMED CT:C0028754 | 3 | 12475635 | 12475635 | C | T |