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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 3 | 131228602 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 108329154 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 121269557 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 64485493 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 98981947 | missense variant | C/T | snv | 4.4E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 108247071 | missense variant | C/A;T | snv | 8.0E-06; 8.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 91724870 | missense variant | C/A;T | snv | 8.2E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 49862154 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 54733118 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 22257356 | missense variant | C/T | snv | 6.7E-04 | 5.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 178785717 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 43102492 | missense variant | G/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 131080575 | missense variant | C/T | snv | 4.8E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
1 | 0.925 | 0.240 | 11 | 108247072 | missense variant | G/A | snv | 8.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 56087718 | missense variant | C/T | snv | 3.6E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 36737396 | missense variant | C/T | snv | 5.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98949733 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 166412769 | missense variant | C/T | snv | 1.3E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 2175293 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98964724 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 36348807 | missense variant | C/T | snv | 2.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 44228798 | missense variant | G/A | snv | 1.9E-04 | 2.0E-04 | 0.700 | 0 |