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 | 1.000 | 0.080 | 17 | 78360015 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 4 | 140565830 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 74002546 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 1 | 32869438 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
6 | 1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | X | 15599940 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
8 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 116787406 | intron variant | G/T | snv | 3.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 11 | 116765068 | intron variant | A/G | snv | 4.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | X | 15564843 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 8 | 19954741 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 0.807 | 0.120 | 1 | 55044016 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 1 | 55052400 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 | 0.010 | 1.000 | 1 | 2020 | 2020 |