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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 0.882 | 0.120 | 17 | 82265743 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 17 | 30249058 | missense variant | T/C | snv | 0.30 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 10 | 124402952 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.080 | X | 71223816 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.080 | 1 | 115286135 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 3 | 38904493 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38924745 | intron variant | G/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38865054 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 38403690 | synonymous variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 2 | 166325017 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 |