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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 125237222 | intron variant | A/G | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.120 | 13 | 71854515 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.160 | 11 | 74009120 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.200 | 20 | 44351775 | intron variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.080 | 2 | 88613755 | missense variant | G/C | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 |