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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.090 | 1.000 | 9 | 2005 | 2017 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.060 | 1.000 | 6 | 2004 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.360 | 9 | 117701869 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 10 | 79612410 | missense variant | C/A;G;T | snv | 4.0E-06; 7.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.120 | 16 | 29679875 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 11 | 126290792 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 118985008 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 118971300 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.200 | 12 | 121132209 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.120 | 12 | 120342128 | 3 prime UTR variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 58808045 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 17 | 4555303 | missense variant | G/C;T | snv | 0.21; 3.1E-05 | 0.010 | < 0.001 | 1 | 2016 | 2016 |