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 | 0.080 | 1 | 39862786 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 3 | 75737670 | frameshift variant | TT/- | del | 7.9E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 203934671 | upstream gene variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 105176946 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 25569623 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 51153191 | upstream gene variant | T/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 23007068 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 16 | 68805390 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 75737671 | missense variant | T/A | snv | 2.0E-05 | 2.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 8 | 91986282 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 11 | 63606853 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 17 | 36071135 | 3 prime UTR variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 14 | 81145770 | 3 prime UTR variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 19 | 35647577 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 15 | 98704566 | intron variant | G/A;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 3 | 119525574 | 3 prime UTR variant | A/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 5566221 | intron variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 16 | 50685192 | upstream gene variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.120 | 14 | 64249595 | synonymous variant | G/C | snv | 2.8E-03 | 9.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.120 | 21 | 42367453 | upstream gene variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 |