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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.120 | 16 | 3728852 | frameshift variant | GCTGGGTGAGA/- | del | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.938 | 16 | 1995 | 2014 | |||
|
3 | 0.882 | 0.080 | 14 | 64425752 | missense variant | G/A | snv | 1.7E-03 | 2.4E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.080 | 6 | 150905747 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2000 | 2003 | |||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.030 | 1.000 | 3 | 2003 | 2009 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 24906679 | missense variant | A/G | snv | 1.2E-03 | 7.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 19 | 18435586 | synonymous variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 19 | 18435868 | synonymous variant | T/C | snv | 0.38 | 0.47 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 16 | 24908983 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 16 | 24891045 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
1 | 1.000 | 0.080 | 5 | 79074078 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 6 | 149793609 | missense variant | G/A | snv | 0.46 | 0.53 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 196238244 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 11 | 65856268 | 5 prime UTR variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 2 | 222299799 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 65856048 | synonymous variant | G/A | snv | 0.57 | 0.52 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 65857091 | splice donor variant | A/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 114312721 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 11 | 114312587 | 3 prime UTR variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2008 | 2008 |