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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2008 | 2016 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.720 | 1.000 | 4 | 2006 | 2015 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.716 | 0.240 | 9 | 4981866 | upstream gene variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.716 | 0.280 | 3 | 49534707 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.280 | 19 | 48703728 | missense variant | G/A | snv | 0.40 | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
16 | 0.716 | 0.240 | 5 | 40487168 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 10 | 62679011 | downstream gene variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |