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 | 0.040 | 11 | 124744061 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 8 | 10719265 | downstream gene variant | G/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 130459801 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 197518575 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 2293080 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 4 | 169705401 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 11 | 130848735 | intron variant | T/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 130986204 | intergenic variant | T/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 53141001 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 29955302 | upstream gene variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32570699 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 104249635 | intergenic variant | G/A;C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 10 | 102852578 | intron variant | T/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 10 | 103153896 | intron variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 105103772 | non coding transcript exon variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 6 | 31268274 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 73283600 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 |