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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 22 | 29224336 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2018 | |||||||
|
1 | 2 | 28135884 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 7 | 117996057 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 7 | 116510041 | downstream gene variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||||
|
1 | 18 | 76358607 | splice region variant | T/C | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 28620834 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
2 | 9 | 133253728 | non coding transcript exon variant | A/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 17 | 9937184 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 75904083 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 11 | 120422429 | intron variant | G/A | snv | 8.6E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
2 | 13 | 40545329 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
5 | 0.882 | 0.040 | 17 | 10130362 | intron variant | C/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 18 | 55668281 | intron variant | T/A | snv | 3.2E-02 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 9 | 127100889 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 36126011 | upstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 9 | 126610831 | intron variant | G/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 16 | 77504106 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
1 | 3 | 172208901 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 66314134 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 11 | 120418990 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
1 | 8 | 106951998 | intergenic variant | T/G | snv | 8.7E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 4 | 100539519 | intron variant | T/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 9 | 4216751 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 6 | 45554923 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.040 | 6 | 51542050 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 |