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 | 1.000 | 0.080 | 12 | 114355435 | 3 prime UTR variant | C/G;T | snv | 1.8E-05; 0.61 | 0.710 | 1.000 | 5 | 2016 | 2018 | ||||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.710 | 1.000 | 4 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110840331 | regulatory region variant | T/C | snv | 0.22 | 0.710 | 1.000 | 4 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110744627 | intergenic variant | T/C | snv | 0.70 | 0.710 | 1.000 | 3 | 2007 | 2015 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 4 | 110815726 | intergenic variant | A/T | snv | 5.6E-02 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103720629 | intron variant | T/A | snv | 0.11 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 154890476 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103582915 | non coding transcript exon variant | A/G | snv | 0.16 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 178546938 | intron variant | A/G | snv | 0.23 | 0.22 | 0.700 | 1.000 | 3 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 65057097 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 170224684 | intron variant | G/C | snv | 7.3E-02 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 18056461 | 3 prime UTR variant | G/A | snv | 0.77 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 148016386 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 173526198 | 3 prime UTR variant | A/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 110816937 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 203057086 | intron variant | T/G | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 122843353 | intron variant | C/A | snv | 0.81 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 149077964 | downstream gene variant | G/T | snv | 6.5E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 111849738 | intron variant | G/T | snv | 0.10 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 32825503 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 80384583 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110807458 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 22 | 25768112 | splice region variant | C/G;T | snv | 8.7E-06; 0.54 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 1953015 | missense variant | G/A | snv | 2.5E-02 | 2.5E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 |