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 | 2 | 25235768 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||||
|
1 | 9 | 127682451 | stop gained | C/A;T | snv | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
2 | 1.000 | 1 | 244054957 | stop gained | C/T | snv | 0.700 | 1.000 | 26 | 1997 | 2017 | ||||||
|
5 | 0.925 | 0.120 | 12 | 49032113 | 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 | |||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||
|
1 | 1 | 42930661 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | |||||||
|
3 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | ||||||
|
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 | 1.000 | 8 | 60742366 | stop gained | C/T | snv | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||
|
19 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||
|
2 | 18 | 7012105 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 14 | 1981 | 2016 | ||||||
|
1 | 16 | 89513008 | stop gained | C/A;G;T | snv | 4.0E-06; 5.7E-05; 4.9E-05 | 0.700 | 1.000 | 13 | 2012 | 2017 | ||||||
|
3 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||
|
3 | 1.000 | X | 41542781 | stop gained | T/A | snv | 0.700 | 1.000 | 13 | 2008 | 2015 | ||||||
|
3 | 1.000 | 5 | 150069942 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1984 | 2014 | |||||
|
2 | 1.000 | X | 53196897 | stop gained | G/A | snv | 0.700 | 1.000 | 12 | 2005 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 15 | 25370913 | stop gained | G/A | snv | 0.700 | 1.000 | 12 | 1990 | 2015 | |||||
|
1 | 20 | 50892501 | stop gained | G/C | snv | 0.700 | 1.000 | 11 | 2001 | 2017 | |||||||
|
4 | 0.925 | 0.080 | 16 | 57651421 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 2003 | 2015 | |||
|
3 | 5 | 88804732 | stop gained | CA/- | delins | 0.700 | 1.000 | 10 | 2007 | 2016 | |||||||
|
1 | X | 120544122 | stop gained | C/A | snv | 0.700 | 1.000 | 10 | 2000 | 2017 | |||||||
|
1 | X | 49078050 | stop gained | G/A | snv | 0.700 | 1.000 | 10 | 2010 | 2017 |