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 | 1.000 | X | 20195156 | intron variant | T/C | snv | 0.700 | 1.000 | 11 | 2001 | 2015 | ||||||
|
2 | 2 | 25235768 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||||
|
4 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
4 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 0.700 | 1.000 | 30 | 1996 | 2018 | ||||||
|
2 | 1.000 | 21 | 33554269 | stop gained | G/T | snv | 0.700 | 1.000 | 28 | 1988 | 2016 | ||||||
|
5 | 0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||
|
3 | 0.925 | 0.120 | 12 | 49031255 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||
|
4 | 0.925 | 3 | 51064514 | stop gained | C/T | snv | 0.700 | 1.000 | 23 | 2000 | 2018 | ||||||
|
2 | 3 | 41235799 | stop gained | C/A;T | snv | 0.700 | 1.000 | 22 | 1991 | 2017 | |||||||
|
2 | 1.000 | 18 | 55261525 | stop gained | C/A | snv | 0.700 | 1.000 | 22 | 2007 | 2017 | ||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||
|
2 | 1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 22 | 1991 | 2017 | |||
|
2 | 1.000 | 11 | 118494360 | stop gained | A/T | snv | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||
|
2 | 1.000 | 2 | 199349006 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1989 | 2017 | ||||||
|
3 | 1.000 | 13 | 23354906 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1993 | 2016 | ||||||
|
4 | 1.000 | X | 77593803 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1992 | 2017 | ||||||
|
3 | 0.925 | 0.280 | 6 | 157206917 | stop gained | C/T | snv | 0.700 | 1.000 | 20 | 1984 | 2017 | |||||
|
2 | 1.000 | 6 | 157207180 | stop gained | G/A | snv | 0.700 | 1.000 | 20 | 1984 | 2017 | ||||||
|
3 | 0.925 | 0.280 | 6 | 156829302 | stop gained | C/T | snv | 0.700 | 1.000 | 20 | 1984 | 2017 | |||||
|
2 | 1.000 | 6 | 157181016 | stop gained | C/G;T | snv | 2.8E-05 | 0.700 | 1.000 | 20 | 1984 | 2017 | |||||
|
4 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 1.000 | 19 | 2003 | 2016 | |||||
|
1 | 22 | 41127646 | stop gained | C/T | snv | 0.700 | 1.000 | 19 | 1963 | 2016 | |||||||
|
2 | 1.000 | 22 | 41170482 | stop gained | C/T | snv | 0.700 | 1.000 | 19 | 1963 | 2016 | ||||||
|
4 | 0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||
|
2 | 1.000 | 0.080 | X | 154031217 | stop gained | G/A;C | snv | 5.4E-06 | 0.700 | 1.000 | 19 | 1993 | 2016 |