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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 0.500 | 4 | 1996 | 2002 | |||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 1998 | 1999 | |||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.120 | 2 | 162144042 | missense variant | G/T | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 2 | 162145570 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.120 | 2 | 162145588 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.120 | 2 | 162147470 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 2 | 162144043 | missense variant | T/C | snv | 2.8E-05 | 1.4E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 2 | 162147505 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.080 | 2 | 162147505 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.851 | 0.120 | 2 | 162147479 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |