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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2012 | 2015 | |||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
1 | 19 | 14476390 | upstream gene variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 13 | 47954510 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.080 | 11 | 27731216 | intron variant | T/C;G | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 17 | 1405534 | intergenic variant | A/G | snv | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
2 | 1.000 | 0.040 | 5 | 63960902 | missense variant | C/A;T | snv | 8.0E-06; 1.4E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 2 | 230169144 | missense variant | C/G;T | snv | 3.8E-04; 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
11 | 0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 17 | 1361770 | non coding transcript exon variant | A/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 15 | 63302416 | frameshift variant | A/- | delins | 4.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 |