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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 8 | 26866167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 0.925 | 0.080 | 12 | 56452706 | non coding transcript exon variant | C/T | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.851 | 0.120 | 9 | 84667612 | upstream gene variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 6 | 154118718 | synonymous variant | C/T | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 14 | 77327849 | non coding transcript exon variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
15 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2008 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
2 | 1.000 | 0.120 | 11 | 112166930 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 12 | 117277815 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.120 | 1 | 99913557 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 5 | 40764955 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 |