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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.900 | 0.961 | 51 | 2007 | 2019 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.900 | 0.955 | 44 | 2007 | 2019 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.100 | 0.841 | 44 | 1994 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.938 | 32 | 1999 | 2019 | |||
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.900 | 1.000 | 32 | 2008 | 2019 | ||||
|
12 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 0.900 | 0.966 | 29 | 2007 | 2019 | |||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.900 | 0.964 | 28 | 2007 | 2019 | ||||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.900 | 0.958 | 24 | 2007 | 2019 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.944 | 18 | 2000 | 2019 | ||||
|
10 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 0.900 | 0.889 | 18 | 2008 | 2019 | |||||
|
9 | 0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 | 0.900 | 0.941 | 17 | 2007 | 2019 | ||||
|
8 | 0.882 | 0.160 | 10 | 92722160 | intergenic variant | G/A;T | snv | 0.800 | 0.941 | 17 | 2007 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.100 | 1.000 | 14 | 2009 | 2019 | |||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.900 | 1.000 | 13 | 2007 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.100 | 0.923 | 13 | 2009 | 2019 | |||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 1.000 | 12 | 1996 | 2019 | |||
|
6 | 0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 | 0.880 | 1.000 | 11 | 2008 | 2019 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.870 | 1.000 | 11 | 2009 | 2019 | ||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.100 | 0.800 | 10 | 2009 | 2019 | ||||
|
5 | 0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 | 0.100 | 1.000 | 10 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 | 0.840 | 1.000 | 10 | 2010 | 2019 | ||||
|
5 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 0.820 | 1.000 | 10 | 2008 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.790 | 1.000 | 10 | 2010 | 2019 | |||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.770 | 1.000 | 9 | 2008 | 2019 |