| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 10 | 63577393 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.120 | X | 8945785 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 1.000 | 0.040 | 17 | 7631360 | missense variant | C/A;T | snv | 5.6E-05; 4.5E-03 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.882 | 0.200 | 17 | 7634474 | downstream gene variant | T/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 17 | 7648805 | intron variant | C/T | snv | 6.5E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 22247449 | intergenic variant | T/C | snv | 0.59 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 7555982 | intron variant | G/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 7 | 99477415 | intron variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 13 | 24673148 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 17 | 7583790 | 5 prime UTR variant | A/C;G | snv | 4.0E-06; 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 17 | 7690001 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 1.000 | 0.080 | 7 | 99533211 | 3 prime UTR variant | G/A;T | snv | 7.7E-06; 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 7440221 | 5 prime UTR variant | CC/-;C;CCC;CCCC | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 7491857 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 7476457 | intron variant | G/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 17 | 7587859 | 3 prime UTR variant | G/T | snv | 0.71 | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 2 | 101996551 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 17 | 7548527 | upstream gene variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 7474221 | intron variant | TTT/-;T;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.120 | 2 | 81214976 | intergenic variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 17 | 7633780 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 7514792 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |