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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 22 | 23793671 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.800 | 1.000 | 5 | 2009 | 2014 | |||||
|
2 | 1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 83199436 | intergenic variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.040 | 12 | 75848895 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.040 | 7 | 55067179 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 208186862 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
4 | 0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
5 | 0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.040 | 16 | 73898 | intron variant | A/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.040 | 7 | 55080369 | intron variant | AA/-;A;AAA;AAAA;AAAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.800 | 1.000 | 5 | 2009 | 2014 | ||||
|
2 | 1.000 | 0.040 | 10 | 103901557 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.700 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 |