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 | 0.160 | X | 43949932 | missense variant | C/A;G;T | snv | 1.2E-05; 2.4E-05 | 0.800 | 1.000 | 20 | 1992 | 2010 | ||||
|
1 | 1.000 | 0.160 | X | 43949977 | missense variant | G/C | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43950022 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43958515 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949914 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949995 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949888 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949913 | missense variant | G/C | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43958608 | missense variant | A/C | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43950020 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949899 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2010 | |||||
|
2 | 0.925 | 0.160 | X | 43949873 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1992 | 2010 | |||||
|
2 | 0.925 | 0.160 | X | 43949840 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2010 | |||||
|
1 | 1.000 | 0.160 | X | 43949934 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1992 | 2010 | |||||
|
2 | 0.925 | 0.160 | X | 43950001 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1992 | 2010 | |||||
|
2 | 0.925 | 0.160 | X | 43958534 | missense variant | G/A;T | snv | 5.5E-06; 5.5E-06 | 0.700 | 1.000 | 20 | 1992 | 2010 | ||||
|
1 | 1.000 | 0.160 | X | 43949817 | stop gained | G/A;T | snv | 3.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 43949983 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 43949933 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 43950007 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 43958512 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 43958645 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | X | 43949981 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 120806619 | missense variant | C/A | snv | 0.700 | 0 |