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 | 38609824 | missense variant | G/A;C | snv | 0.800 | 1.000 | 26 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
2 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.080 | 3 | 38606709 | missense variant | C/A;T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
3 | 0.882 | 0.120 | 3 | 38566555 | missense variant | G/A | snv | 0.700 | 1.000 | 24 | 1998 | 2017 | |||||
|
6 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
4 | 0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1998 | 2016 | |||||
|
2 | 0.925 | 0.120 | 3 | 38633058 | missense variant | C/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38630425 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38630422 | missense variant | A/C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620929 | missense variant | C/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620921 | missense variant | G/C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38620910 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
2 | 0.925 | 0.120 | 3 | 38613811 | missense variant | A/G;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
2 | 1.000 | 0.080 | 3 | 38609860 | missense variant | G/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609841 | missense variant | A/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
3 | 0.925 | 0.080 | 3 | 38608175 | missense variant | A/C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
2 | 0.925 | 0.080 | 3 | 38606802 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606757 | missense variant | C/A;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
3 | 0.882 | 0.120 | 3 | 38606751 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606703 | missense variant | A/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606133 | missense variant | C/T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
3 | 0.925 | 0.120 | 3 | 38606102 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38606103 | missense variant | C/G | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38604745 | missense variant | T/A;C | snv | 0.700 | 1.000 | 21 | 1998 | 2016 |