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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.776 | 0.160 | 17 | 30223796 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.882 | 0.080 | 12 | 108883967 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.120 | 6 | 15627871 | intron variant | T/C | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 17 | 45799654 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 16 | 55699647 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.120 | 10 | 49619853 | synonymous variant | T/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 11 | 2166716 | missense variant | G/A;T | snv | 6.9E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
6 | 0.925 | 0.080 | 12 | 56452706 | non coding transcript exon variant | C/T | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 12 | 71999134 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 10 | 71336479 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.120 | 15 | 60974897 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 12 | 47751585 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.807 | 0.160 | 12 | 56421497 | splice region variant | T/C | snv | 0.43 | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.925 | 0.080 | 12 | 56420869 | missense variant | G/A;C | snv | 0.49; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 |