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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.830 | 1.000 | 7 | 2007 | 2019 | |||||||
|
0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.810 | 1.000 | 2 | 2007 | 2011 | |||||||
|
12 | 56102035 | missense variant | G/A | snv | 1.1E-04 | 1.4E-04 |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
12 | 56088073 | missense variant | C/A;G | snv | 4.0E-06 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 56088558 | missense variant | A/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 56088558 | missense variant | A/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 56088558 | missense variant | A/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 56088558 | missense variant | A/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 56088558 | missense variant | A/T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 12 | 56085070 | missense variant | G/A;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 56098096 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |