PPARG, peroxisome proliferator activated receptor gamma, 5468
N. diseases: 877; N. variants: 101
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2000 | 2014 | |||||||
|
0.882 | 0.080 | 3 | 12417048 | missense variant | T/A | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2002 | 2002 | ||||||||
|
0.851 | 0.160 | 3 | 12433900 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 3 | 12392701 | missense variant | T/A | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 12392713 | missense variant | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 12416855 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 12392714 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 12381481 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 12405897 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 12433979 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 12416893 | frameshift variant | CTTGA/- | delins |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 12433986 | frameshift variant | C/- | delins | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 |