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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 20115561 | missense variant | T/C | snv | 0.66 | 0.70 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
3 | 1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 196718199 | intron variant | A/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 196729914 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 196735074 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 44602096 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 196718600 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 1 | 196721120 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 1 | 196722334 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 196732343 | intron variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.080 | 1 | 196735502 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 219751552 | intron variant | T/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 221910253 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 53405413 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 1 | 161690011 | upstream gene variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 239737706 | intron variant | G/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 150754853 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 1 | 196735429 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 |