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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv | 0.820 | 1.000 | 36 | 1993 | 2017 | |||||
|
4 | 0.851 | 0.160 | 15 | 48488233 | missense variant | C/T | snv | 0.810 | 1.000 | 33 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48510115 | missense variant | T/A | snv | 0.810 | 1.000 | 31 | 1993 | 2017 | |||||
|
7 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 0.810 | 1.000 | 31 | 1993 | 2017 | |||||
|
6 | 0.851 | 0.160 | 15 | 48487396 | missense variant | C/T | snv | 0.810 | 1.000 | 26 | 1976 | 2013 | |||||
|
11 | 0.742 | 0.200 | 15 | 48537629 | missense variant | G/A | snv | 0.800 | 1.000 | 37 | 1993 | 2019 | |||||
|
2 | 0.925 | 0.160 | 15 | 48489896 | missense variant | C/G;T | snv | 0.800 | 1.000 | 37 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48503845 | stop gained | G/A;C;T | snv | 7.6E-04 | 0.800 | 1.000 | 37 | 1993 | 2017 | ||||
|
2 | 0.925 | 0.160 | 15 | 48489947 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 35 | 1993 | 2017 | ||||
|
2 | 0.925 | 0.160 | 15 | 48432943 | missense variant | C/G;T | snv | 0.800 | 1.000 | 34 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48596292 | missense variant | A/G | snv | 0.800 | 1.000 | 34 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48483931 | missense variant | C/T | snv | 0.800 | 1.000 | 33 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48428423 | missense variant | C/G;T | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48483910 | missense variant | C/G | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48463977 | missense variant | A/G | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48497391 | missense variant | T/G | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48485418 | missense variant | C/A;T | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48487425 | missense variant | C/T | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48483863 | missense variant | A/G | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48487389 | missense variant | C/T | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.160 | 15 | 48487317 | missense variant | C/T | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 15 | 48441771 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 30 | 1993 | 2017 | ||||
|
1 | 1.000 | 0.160 | 15 | 48437370 | missense variant | A/G | snv | 0.800 | 1.000 | 30 | 1993 | 2017 | |||||
|
9 | 0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv | 0.800 | 1.000 | 23 | 1996 | 2017 | |||||
|
5 | 0.851 | 0.200 | 15 | 48425483 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 23 | 1993 | 2016 |