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 | 0.080 | 2 | 27764354 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 20 | 54086745 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 20381986 | intron variant | A/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 142929678 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 7 | 142930043 | intron variant | A/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 142928163 | synonymous variant | G/A | snv | 5.1E-02 | 9.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 21500073 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 131002852 | intron variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 30878216 | intron variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 42171982 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 14461154 | intron variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 17 | 61394696 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 6 | 50821065 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 20 | 54098167 | regulatory region variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 21 | 36464675 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 93426338 | 3 prime UTR variant | G/A | snv | 0.15 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.120 | 13 | 33016046 | upstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 6 | 39156672 | intergenic variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 142929454 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 10 | 62655424 | missense variant | A/C;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 16 | 53763996 | intron variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.200 | 11 | 64591825 | missense variant | G/A | snv | 1.8E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.240 | 7 | 93426441 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 |