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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.020 | 0.500 | 2 | 2016 | 2019 | |||
|
22 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 2 | 46306413 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
12 | 0.732 | 0.480 | 5 | 132677033 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
24 | 0.672 | 0.520 | 2 | 177265309 | intron variant | T/C;G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.030 | 0.667 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 144450626 | intron variant | T/C | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||
|
2 | 0.925 | 0.120 | 14 | 72812712 | intron variant | T/C | snv | 0.23 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 2 | 46298957 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.240 | 3 | 169818849 | upstream gene variant | T/C | snv | 0.26 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 7 | 116778827 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 |