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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 11 | 108289005 | missense variant | C/T | snv | 1.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 111447512 | missense variant | G/A | snv | 4.1E-06 | 8.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 12 | 111447663 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
9 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 5 | 115625762 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 0.857 | 7 | 2012 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.917 | 12 | 2003 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 9 | 130854977 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 0.730 | 1.000 | 4 | 2006 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 130862943 | missense variant | A/G | snv | 0.710 | 1.000 | 10 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 130862953 | missense variant | A/G | snv | 2.6E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 9 | 130862955 | missense variant | C/G | snv | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 130862962 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2002 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 130862969 | missense variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2002 | 2014 | |||||
|
5 | 0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv | 0.700 | 1.000 | 16 | 2002 | 2014 | |||||
|
2 | 0.925 | 0.080 | 9 | 130862971 | missense variant | A/T | snv | 0.720 | 1.000 | 6 | 2002 | 2014 | |||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.730 | 1.000 | 18 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.080 | 9 | 130862977 | missense variant | A/T | snv | 0.700 | 1.000 | 10 | 2001 | 2014 |