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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms; Nervous System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 0.953 | 190 | 2006 | 2020 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 0.908 | 65 | 2006 | 2020 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 1.000 | 37 | 2006 | 2020 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Endocrine System Diseases | 0.100 | 1.000 | 35 | 2006 | 2020 | ||||||||
|
0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 1.000 | 23 | 2006 | 2020 | |||||||
|
0.827 | 0.200 | 10 | 113047288 | intron variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 0.917 | 12 | 2006 | 2020 | ||||||||
|
0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.870 | 0.900 | 10 | 2006 | 2020 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.090 | 1.000 | 9 | 2006 | 2016 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Endocrine System Diseases | 0.090 | 1.000 | 9 | 2006 | 2016 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.070 | 1.000 | 7 | 2006 | 2020 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases | 0.040 | 0.750 | 4 | 2006 | 2017 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.100 | 0.944 | 18 | 2007 | 2019 | ||||||||
|
0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.667 | 15 | 2007 | 2015 | |||||||
|
0.925 | 0.160 | 10 | 113080735 | intron variant | G/A | snv | 0.25 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.100 | 0.700 | 10 | 2007 | 2015 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.090 | 0.444 | 9 | 2007 | 2017 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.070 | 0.857 | 7 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 4 | 2007 | 2015 | |||||||
|
0.851 | 0.160 | 10 | 113041766 | intron variant | G/A | snv | 0.53 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 0.500 | 4 | 2007 | 2013 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.040 | 0.750 | 4 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 113138334 | intron variant | T/C | snv | 0.71 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2007 | 2008 |