| 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 | 19 | 23966743 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 16 | 11826180 | intron variant | A/G;T | snv | 0.710 | 1.000 | 3 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 16 | 88482856 | intron variant | C/G | snv | 0.47 | 0.710 | 1.000 | 3 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 142100008 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 156582935 | regulatory region variant | C/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 149650996 | upstream gene variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 87852267 | intergenic variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 5 | 119526018 | missense variant | A/G | snv | 0.42 | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 7 | 158708801 | upstream gene variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 12 | 14367767 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 14 | 64225135 | intron variant | C/T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 52091515 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 58579263 | intron variant | A/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 15 | 55746509 | upstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 11753991 | intron variant | C/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 175524333 | intergenic variant | C/A | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | X | 154307767 | intron variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 40880714 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 27766485 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 15 | 51256585 | intron variant | C/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 121250365 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 23868026 | intron variant | A/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 170038331 | non coding transcript exon variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 2132820 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 9653328 | non coding transcript exon variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 |