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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
2 | 5 | 32714164 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||||
|
10 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
10 | 0.925 | 0.040 | 12 | 89619312 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
5 | 0.925 | 0.120 | 10 | 102836092 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 14 | 92340986 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 55898967 | downstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 10 | 18439030 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1.000 | 0.040 | 21 | 43339560 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 4 | 80237391 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 11 | 16228637 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 4 | 45764988 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 6 | 15922795 | TF binding site variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 1.000 | 0.160 | 3 | 41946428 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 55913899 | missense variant | T/C;G | snv | 1.6E-05; 6.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 55979537 | non coding transcript exon variant | C/G;T | snv | 6.9E-06; 5.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 56128173 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 55940815 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 15 | 90980483 | non coding transcript exon variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
7 | 6 | 26107235 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |