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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719736 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719739 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719667 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 7674245 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 74540276 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | < 0.001 | 3 | 2007 | 2014 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | < 0.001 | 3 | 2007 | 2014 | |||||
|
4 | 0.851 | 0.160 | 4 | 184627797 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
8 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
6 | 0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
15 | 0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
14 | 0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.400 | 5 | 2007 | 2015 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 0.500 | 2 | 2015 | 2016 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.050 | 0.600 | 5 | 2007 | 2015 |