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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.807 | 0.280 | 7 | 151003224 | missense variant | C/T | snv | 7.9E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
17 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
30 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
14 | 0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.060 | 1.000 | 6 | 2007 | 2015 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.040 | 1.000 | 4 | 2007 | 2016 | |||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 3 | 126154627 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 1.000 | 0.120 | 2 | 201185954 | synonymous variant | A/G | snv | 0.45 | 0.49 | 0.010 | 1.000 | 1 | 2007 | 2007 |