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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 12 | 6018667 | missense variant | T/C | snv | 2.7E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 9 | 4719292 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.080 | 2 | 46905501 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 18 | 40854820 | intergenic variant | C/T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 31270435 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 5 | 180250517 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | X | 155022510 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 155022476 | missense variant | A/C | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 155022464 | missense variant | T/A | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 155022449 | missense variant | T/C | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 155022432 | missense variant | C/A;T | snv | 1.1E-04; 1.1E-05 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 155022410 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154999544 | frameshift variant | TT/-;TTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154999538 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154999532 | frameshift variant | AACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154999496 | missense variant | G/C | snv | 2.7E-05 | 0.700 | 1.000 | 20 | 1989 | 2002 | ||||
|
1 | 1.000 | 0.080 | X | 154997095 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154997086 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 2011 | 2013 |