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 | 112948751 | upstream gene variant | C/T | snv | 0.23 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 10 | 112948751 | upstream gene variant | C/T | snv | 0.23 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
10 | 113129502 | 5 prime UTR variant | T/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 10 | 113151854 | synonymous variant | C/T | snv | 1.6E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 10 | 113152371 | synonymous variant | C/T | snv | 2.8E-05 | 2.1E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 10 | 112951246 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
10 | 113146078 | missense variant | G/A | snv | 4.0E-06 | 7.1E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 113151879 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 10 | 113151879 | missense variant | C/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 10 | 113146030 | missense variant | C/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 10 | 112950901 | missense variant | G/C | snv | 4.0E-06 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
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 | ||||||
|
1.000 | 0.040 | 10 | 112950932 | missense variant | C/A | snv | 4.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 10 | 112950932 | missense variant | C/A | snv | 4.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 10 | 113165610 | missense variant | C/A | snv | 5.3E-02 | 2.9E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 10 | 113146069 | missense variant | G/C;T | snv | 4.0E-06; 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 10 | 113146069 | missense variant | G/C;T | snv | 4.0E-06; 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | |||||||
|
0.554 | 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 |