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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 101509537 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 11 | 105762027 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 13 | 107219364 | intron variant | G/C | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 7 | 108908603 | upstream gene variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 111524099 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
8 | 0.807 | 0.160 | 12 | 112083644 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 113395026 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 113396169 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 113399438 | missense variant | A/C;G | snv | 4.5E-06; 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
2 | 1.000 | 0.080 | 11 | 113410002 | 3 prime UTR variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 113414400 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 11 | 113442667 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 113448730 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 113460810 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 0.080 | 11 | 113904553 | upstream gene variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 113915817 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
2 | 0.925 | 0.080 | 3 | 114120575 | intergenic variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 3 | 114127166 | downstream gene variant | T/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 114144040 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 |