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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.120 | 6 | 21430497 | intergenic variant | TAG/CAT | mnv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.040 | 0.750 | 4 | 2008 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 102046427 | intron variant | T/G | snv | 0.62 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 20 | 35211477 | intron variant | T/G | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 46616653 | downstream gene variant | T/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 6 | 167098098 | intron variant | T/G | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 3 | 124908177 | missense variant | T/G | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.120 | 2 | 102358876 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 198006693 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.160 | 22 | 45331684 | intron variant | T/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 30163346 | 5 prime UTR variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 40401407 | intergenic variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 4 | 105154341 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 41443512 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.120 | 10 | 35177257 | intron variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 5 | 10689450 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.120 | 20 | 32261714 | intergenic variant | T/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 1 | 172875212 | intron variant | T/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 10 | 26890667 | regulatory region variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 |