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 | 0.040 | 3 | 195790450 | missense variant | G/A;T | snv | 0.78; 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.120 | 7 | 142800425 | upstream gene variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | X | 49258209 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | X | 49255822 | intron variant | C/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 3 | 195762138 | missense variant | C/A;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 195752385 | missense variant | T/A;C | snv | 0.89 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.827 | 0.280 | X | 49252667 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 53844589 | 5 prime UTR variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 195778793 | missense variant | G/A;C;T | snv | 0.79; 4.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 6971563 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.790 | 0.200 | 9 | 34710263 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 17 | 17516904 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 17 | 17513855 | intron variant | T/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 5 | 79085866 | intron variant | A/C;T | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 3 | 196237816 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 5 | 79105085 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 |