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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 11 | 123084529 | missense variant | A/G;T | snv | 8.0E-06 |
|
Digestive System Diseases | 0.800 | 0 | ||||||||||
|
11 | 123078837 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
11 | 123078837 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
11 | 123093392 | intron variant | A/C;G;T | snv |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 123093392 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 123090950 | intron variant | A/G | snv | 0.41 |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
11 | 123090950 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 123175022 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 123094779 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 123094779 | intron variant | A/C;G | snv |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
11 | 123095918 | intron variant | A/G | snv | 0.41 |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
11 | 123095918 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.040 | 11 | 123083728 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
11 | 123193940 | intron variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 123084670 | frameshift variant | T/- | del | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 11 | 123074702 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 11 | 123083100 | stop gained | G/A | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 11 | 123083734 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |