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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.060 | 0.833 | 6 | 2004 | 2019 | ||||||
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.833 | 6 | 2003 | 2012 | ||||||
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.060 | 0.833 | 6 | 2003 | 2012 | ||||||
|
0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 0.667 | 3 | 2010 | 2014 | |||||||
|
0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||||
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||||
|
0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 |
|
Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||||
|
1.000 | 0.040 | 17 | 7630506 | missense variant | A/G | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
17 | 7633255 | missense variant | A/G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 0.040 | 17 | 7631341 | missense variant | G/A;C | snv | 2.8E-05; 1.7E-03 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 7631674 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 17 | 7630488 | missense variant | G/C | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 17 | 7630488 | missense variant | G/C | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 17 | 7631317 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 17 | 7631317 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 17 | 7631317 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
17 | 7633271 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 |