| 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 | 0.040 | 4 | 175138126 | intron variant | G/T | snv | 9.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 66212157 | intergenic variant | A/T | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 112431166 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 133794260 | intergenic variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 23848945 | intron variant | C/T | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 83692397 | intergenic variant | C/A;T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 45492929 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 119471312 | intergenic variant | T/G | snv | 8.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 110589931 | intergenic variant | G/A;T | snv | 9.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 51827061 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 25573788 | intergenic variant | A/G | snv | 0.97 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 5637380 | intron variant | A/- | del | 7.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 22 | 19299874 | intron variant | AA/-;AAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 122472555 | intron variant | -/T | delins | 9.1E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 58871307 | intron variant | AAA/-;AA;AAAA | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 77021786 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 162064381 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 4 | 145162664 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 23792721 | 3 prime UTR variant | A/T | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 175616110 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 20772323 | intron variant | G/A | snv | 5.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 56719418 | intergenic variant | G/T | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 113529488 | intron variant | C/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 55915613 | missense variant | T/A;G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 8520648 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |