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 | 2 | 15467394 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 2 | 15467394 | stop gained | G/A | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 2 | 15238670 | missense variant | C/A;T | snv | 2.8E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 2 | 15402229 | stop gained | G/A | snv | 1.2E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 2 | 15258840 | intron variant | T/G | snv | 0.56 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 2 | 15402288 | missense variant | A/C;G | snv | 1.2E-05; 1.1E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 2 | 15032425 | regulatory region variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 2 | 15032425 | regulatory region variant | T/C | snv | 0.80 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 15076492 | intergenic variant | T/C | snv | 0.30 |
|
Respiratory Tract Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 15476091 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 2 | 15539327 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 2 | 15539327 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 2 | 15534609 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 2 | 15468510 | stop gained | C/A;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 2 | 15394320 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 2 | 15245360 | intron variant | C/T | snv | 0.45 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 2 | 15424368 | missense variant | C/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 15536479 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 15467670 | missense variant | A/C | snv | 7.6E-05 | 1.7E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 15534602 | frameshift variant | -/A | delins | 3.5E-04 | 3.8E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 2 | 15474165 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 15178988 | splice region variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 15536505 | inframe deletion | TCA/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 15536460 | inframe deletion | GAG/- | delins | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 2 | 15394320 | missense variant | A/G | snv |
|
0.800 | 0 |