Source: ALL
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 | 0.280 | 1 | 11802962 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 0.810 | 1.000 | 8 | 1995 | 2015 | ||||
|
3 | 0.882 | 0.040 | 1 | 11794766 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.800 | 1.000 | 13 | 1995 | 2017 | |||
|
1 | 1.000 | 1 | 11796219 | missense variant | A/T | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11800250 | missense variant | C/T | snv | 6.0E-05 | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||
|
1 | 1.000 | 1 | 11802915 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11801257 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11802980 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11802941 | stop gained | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11801392 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11801248 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11801196 | missense variant | T/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796399 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796226 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11796222 | missense variant | C/A | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11796217 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11794853 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11794835 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11794807 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11794781 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11793921 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11792304 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11791235 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
1 | 1.000 | 1 | 11790858 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
1 | 1.000 | 1 | 11790768 | missense variant | A/G;T | snv | 0.800 | 1.000 | 7 | 1995 | 2015 | ||||||
|
2 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.800 | 0 |