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 | 1.000 | 0.120 | 5 | 112837872 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 109734239 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 9 | 35674104 | synonymous variant | T/C | snv | 0.14 | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 5 | 112837977 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 10150259 | 3 prime UTR variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 10148783 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 9 | 8389364 | synonymous variant | C/G;T | snv | 0.50; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 2 | 25312674 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 21 | 43053315 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 23855957 | intergenic variant | A/-;AA;AAA;AAAA;AAAAA;AAAAAAA | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 19 | 10135353 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 64066782 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 97171338 | missense variant | A/G | snv | 2.8E-05; 8.1E-06 | 4.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 5 | 180626237 | missense variant | G/A | snv | 4.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 108312465 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 17222565 | missense variant | G/A | snv | 2.6E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 52563364 | frameshift variant | CACTATCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 116699228 | synonymous variant | G/A | snv | 3.3E-02 | 3.3E-02 | 0.030 | 1.000 | 3 | 2013 | 2016 | |||
|
2 | 0.925 | 0.120 | 2 | 46310465 | intron variant | A/G | snv | 0.52 | 0.030 | 1.000 | 3 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.120 | 5 | 180619344 | missense variant | G/C | snv | 0.63 | 0.61 | 0.020 | 1.000 | 2 | 2014 | 2017 | |||
|
2 | 0.925 | 0.120 | 17 | 17215072 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 12 | 26377610 | intron variant | T/A;C | snv | 0.40 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 4 | 99417185 | intron variant | A/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 10 | 103922538 | upstream gene variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 |