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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||
|
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 | |||||
|
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 | |||||
|
6 | 0.851 | 0.160 | 15 | 48487396 | missense variant | C/T | snv | 0.810 | 1.000 | 26 | 1976 | 2013 | |||||
|
2 | 0.925 | 0.160 | 15 | 48487365 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||
|
2 | 0.925 | 0.160 | 15 | 48488230 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1993 | 2013 | |||||
|
2 | 0.925 | 0.160 | 15 | 48488448 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1993 | 2013 | ||||
|
2 | 0.925 | 0.160 | 15 | 48489979 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1993 | 2013 | |||||
|
2 | 0.925 | 0.160 | 15 | 48448812 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1973 | 2017 |