| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 203684896 | intron variant | G/T | snv | 0.81 |
|
0.810 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.810 | 1.000 | 1 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 5204405 | upstream gene variant | G/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 11 | 4769345 | synonymous variant | A/G | snv | 9.5E-02 | 9.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 11 | 110870290 | intergenic variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 5496926 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 17 | 10670842 | downstream gene variant | C/T | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 184932501 | intron variant | A/C | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 16 | 83327170 | intron variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 126753075 | intron variant | T/- | delins | 0.94 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 43909241 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 4 | 189796550 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 13 | 107575665 | intron variant | A/G | snv | 7.4E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 12496210 | intergenic variant | C/-;CC;CCC | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 53609144 | intergenic variant | G/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 143781321 | intron variant | A/G | snv | 2.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 181901179 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 137676072 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 130547627 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 1 | 67273345 | upstream gene variant | G/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 67265931 | downstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 4897316 | intron variant | G/A | snv | 2.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 99508600 | upstream gene variant | G/A | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |