| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.740 | 1.000 | 9 | 1987 | 2017 | ||||
|
13 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 1987 | 2016 | |||||
|
25 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 6 | 1987 | 2016 | |||||
|
4 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
14 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||
|
19 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 158555761 | upstream gene variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 190689509 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 167933841 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 18358708 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 157650099 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 58318478 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 58318299 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 58306455 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 59112910 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 114003906 | intron variant | A/G | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 119686494 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 177768254 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 181581329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 190028800 | intergenic variant | A/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 209068535 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 209072514 | intergenic variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 168004738 | synonymous variant | C/T | snv | 0.25 | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 1 | 245847731 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 240386016 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 |