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 | 7 | 2750246 | intron variant | A/C;G | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
7 | 2756323 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Digestive System Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | |||||||
|
7 | 2762169 | splice donor variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
7 | 2833645 | intron variant | G/A;T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.120 | 7 | 2830351 | intron variant | T/C | snv | 0.26 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 2786022 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 2842084 | intron variant | AGGAAGGAA/-;AGGAAGGAAAGGAAGGAA;AGGAAGGAAAGGAAGGAAAGGAAGGAAAGGAAGGAA | delins | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 2823257 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 2736084 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 2772998 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 2830954 | intron variant | AAAA/-;AA;AAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 2831405 | intron variant | TTTTTTTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 2831405 | intron variant | TTTTTTTTTTT/-;T;TT;TTTT;TTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 2812656 | intron variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
7 | 2774637 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 2762169 | splice donor variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
7 | 2762169 | splice donor variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 2762169 | splice donor variant | C/T | snv | 0.20 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2016 | 2016 |