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 | 19 | 45364442 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 19 | 45353112 | missense variant | C/A;T | snv | 2.0E-05; 1.9E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 19 | 45352249 | missense variant | G/C | snv | 3.1E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.160 | 19 | 45368993 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 19 | 45369132 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 19 | 45364833 | splice donor variant | CACT/- | delins | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 19 | 45355676 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 19 | 45368692 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.400 | 19 | 45352801 | missense variant | C/G;T | snv | 1.5E-04; 8.0E-06 | 0.810 | 1.000 | 15 | 1994 | 2016 | ||||
|
5 | 0.827 | 0.160 | 19 | 45357368 | missense variant | G/C | snv | 1.2E-03 | 4.4E-04 | 0.720 | 1.000 | 8 | 1994 | 2004 | |||
|
3 | 0.925 | 0.240 | 19 | 45354774 | missense variant | T/C;G | snv | 4.0E-06 | 0.710 | 1.000 | 8 | 1994 | 2016 | ||||
|
4 | 0.851 | 0.200 | 19 | 45369114 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 8 | 1994 | 2015 | ||||
|
3 | 0.882 | 0.160 | 19 | 45368655 | missense variant | C/T | snv | 2.0E-05 | 6.3E-05 | 0.800 | 1.000 | 7 | 1994 | 2004 | |||
|
4 | 0.851 | 0.400 | 19 | 45352511 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 1994 | 2004 | |||
|
4 | 0.851 | 0.400 | 19 | 45352802 | missense variant | G/A | snv | 5.6E-05 | 3.5E-05 | 0.800 | 1.000 | 7 | 1994 | 2004 | |||
|
2 | 0.925 | 0.240 | 19 | 45357295 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1994 | 2004 | |||||
|
1 | 1.000 | 0.160 | 19 | 45353113 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.160 | 19 | 45353109 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2004 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
6 | 0.807 | 0.400 | 19 | 45352352 | missense variant | G/A | snv | 6.0E-05 | 2.8E-05 | 0.810 | 1.000 | 2 | 1996 | 2012 | |||
|
3 | 0.882 | 0.160 | 19 | 45352580 | missense variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
4 | 0.851 | 0.400 | 19 | 45352235 | missense variant | G/A | snv | 2.4E-05 | 9.1E-05 | 0.710 | 1.000 | 1 | 1996 | 1996 | |||
|
3 | 0.882 | 0.160 | 19 | 45352579 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.100 | 0.938 | 32 | 2001 | 2019 | ||||
|
2 | 0.925 | 0.160 | 19 | 45353296 | frameshift variant | AA/- | delins | 2.0E-04 | 0.700 | 1.000 | 3 | 2001 | 2016 |