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 | 0.080 | 2 | 178614110 | missense variant | G/A;T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 3 | 38606743 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 33087470 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.827 | 0.280 | X | 49252667 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.050 | 0.600 | 5 | 2011 | 2014 | ||||
|
9 | 0.776 | 0.240 | 21 | 33404389 | intron variant | A/G | snv | 0.69 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.320 | 6 | 33082502 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.160 | 6 | 30929245 | downstream gene variant | T/C | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 6 | 30927667 | downstream gene variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 22 | 43928850 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 |