| 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 | 6 | 30896502 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 28800336 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 31228777 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 33056722 | regulatory region variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 29180617 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 67283245 | intron variant | T/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 27487202 | upstream gene variant | G/A | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 141851652 | intergenic variant | A/G | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 74783309 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 18 | 53635205 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 27901014 | upstream gene variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 28426903 | intergenic variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 27685341 | upstream gene variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 87332982 | intron variant | C/T | snv | 8.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | X | 3310056 | missense variant | T/G | snv | 9.6E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 243029970 | intron variant | T/C | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 87356828 | intron variant | C/T | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 67740157 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 118255861 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 72303817 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 13 | 32664993 | intron variant | C/G | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 66968056 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 8 | 54583273 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 56927621 | intron variant | G/A | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 99824951 | intron variant | C/T | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |