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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv | 0.800 | 1.000 | 8 | 2009 | 2019 | |||||
|
5 | 0.925 | 0.120 | 4 | 9925343 | intron variant | T/G | snv | 0.39 | 0.800 | 1.000 | 6 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.120 | 11 | 64566642 | non coding transcript exon variant | C/T | snv | 0.37 | 0.800 | 1.000 | 6 | 2009 | 2019 | ||||
|
6 | 0.851 | 0.160 | 4 | 9914117 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
5 | 0.882 | 0.160 | 4 | 88124179 | intron variant | A/G;T | snv | 0.88 | 0.700 | 1.000 | 4 | 2010 | 2019 | ||||
|
5 | 0.882 | 0.200 | 4 | 88133515 | intron variant | A/G | snv | 8.7E-02 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
9 | 1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.120 | 1 | 145711327 | upstream gene variant | T/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
6 | 0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
9 | 0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 | 0.700 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 8 | 75550312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
5 | 0.882 | 0.160 | 1 | 145711421 | upstream gene variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2009 | 2015 | ||||
|
4 | 0.882 | 0.160 | 4 | 88107623 | intron variant | A/G | snv | 7.8E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
5 | 0.882 | 0.200 | 6 | 25794203 | intron variant | A/G | snv | 0.66 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 0.882 | 0.160 | 4 | 88143429 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
4 | 0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
4 | 20 | 58888417 | 5 prime UTR variant | C/G | snv | 0.60 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
5 | 0.882 | 0.160 | 6 | 7101851 | intergenic variant | T/C | snv | 0.64 | 0.700 | 1.000 | 3 | 2010 | 2019 | ||||
|
7 | 0.851 | 0.240 | 4 | 9933120 | intron variant | G/A;T | snv | 0.800 | 1.000 | 3 | 2008 | 2016 | |||||
|
5 | 0.925 | 0.120 | 4 | 9964756 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 3 | 2008 | 2009 | ||||
|
1 | 4 | 9983752 | intron variant | G/T | snv | 0.65 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
8 | 0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 3 | 2018 | 2019 |