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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 3 | 50341515 | intron variant | A/G | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 3 | 50334001 | intron variant | C/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
27 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 0.750 | 4 | 2015 | 2018 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 | 0.720 | 1.000 | 2 | 2015 | 2019 | ||||
|
5 | 0.882 | 0.040 | 20 | 6775501 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 12 | 68820362 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 16 | 58553833 | synonymous variant | C/T | snv | 0.35 | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 33009477 | synonymous variant | C/A;T | snv | 4.3E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
15 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 20 | 6773599 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 |