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 | X | 150167578 | intron variant | C/G | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | X | 8911833 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | X | 154536448 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 22 | 45604058 | downstream gene variant | T/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 22 | 42719570 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 22 | 28807326 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 1.000 | 0.040 | 22 | 45968281 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 22 | 45629162 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 22 | 45914013 | intergenic variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 21 | 36461960 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 21 | 15205839 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 21 | 33982222 | downstream gene variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 21 | 15413369 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 21 | 36700056 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 21 | 33974555 | non coding transcript exon variant | AA/-;A | delins | 0.57 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
21 | 0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.851 | 0.120 | 20 | 41322165 | upstream gene variant | A/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 20 | 50485053 | intergenic variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 20 | 41147406 | intron variant | C/A;T | snv | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 19 | 40760574 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 45257662 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 |