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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 21 | 25897626 | missense variant | TC/GA | mnv | 0.700 | 1.000 | 3 | 1996 | 2013 | |||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 9 | 2009 | 2019 | ||||
|
9 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.900 | 0.950 | 9 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 140327854 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
1 | 1.000 | 0.080 | 19 | 44879727 | intron variant | T/G | snv | 8.9E-02 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 46275856 | intron variant | T/G | snv | 9.8E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44567824 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 6979124 | intron variant | T/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 89830937 | intron variant | T/G | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 44912028 | non coding transcript exon variant | T/G | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44860563 | intron variant | T/G | snv | 6.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 154745783 | intron variant | T/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 44884984 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 100697607 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 44857231 | intron variant | T/G | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.900 | 1.000 | 1 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 60071148 | downstream gene variant | T/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 8 | 93011994 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 86103444 | intergenic variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 0.840 | 1.000 | 1 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 97728623 | intron variant | T/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 43573874 | upstream gene variant | T/G | snv | 0.38 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 109849099 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 44724478 | intron variant | T/C;G | snv | 0.800 | 1.000 | 4 | 2009 | 2018 |