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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.100 | 0.833 | 12 | 2012 | 2018 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.100 | 0.818 | 11 | 2012 | 2018 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 0.625 | 8 | 2012 | 2018 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.040 | 7 | 106868379 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 3 | 41225746 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
33 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.160 | 7 | 74059952 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 14 | 44504889 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
5 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
14 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 12 | 68839357 | synonymous variant | T/C | snv | 1.8E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 12 | 68809237 | missense variant | C/T | snv | 1.6E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 10 | 97462918 | non coding transcript exon variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 7 | 34583412 | intron variant | G/A | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |