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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 0.750 | 1.000 | 6 | 2014 | 2020 | ||||
|
1 | 1.000 | 0.120 | 11 | 110460907 | intron variant | G/A | snv | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 107646236 | intron variant | A/G | snv | 0.19 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
5 | 0.882 | 0.320 | 22 | 30098382 | intron variant | G/A | snv | 0.55 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.120 | 16 | 31356857 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 7233928 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.320 | 2 | 102100877 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 54875434 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 115338434 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 16 | 31365528 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 192565977 | intron variant | C/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 2 | 153179546 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 102535511 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 93314448 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |