Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.851 | 0.240 | 15 | 48415571 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 15 | 48452676 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | 15 | 48485436 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.732 | 0.280 | 15 | 48470705 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.200 | X | 150659665 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 |