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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 2.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.080 | 21 | 44261270 | splice region variant | T/C | snv | 0.70 | 0.75 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 6 | 116279412 | missense variant | G/C | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 3 | 37016100 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 7 | 6005973 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 7 | 5977755 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 3 | 37017520 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 7 | 5986916 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
2 | 0.925 | 0.040 | 7 | 135230056 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.240 | 12 | 88560182 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.320 | 12 | 88496894 | 3 prime UTR variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 1 | 247896410 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 48664148 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | X | 30308211 | missense variant | C/A | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 32434957 | missense variant | G/A | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |