| 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 | 11 | 32346024 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 13 | 40269668 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 6 | 152245912 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40414942 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 19964189 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 4 | 45786110 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 39760432 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 48948860 | regulatory region variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 53021103 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 46136789 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 54199163 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.882 | 0.120 | 15 | 74721227 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 4 | 46002240 | intergenic variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 13 | 39726408 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.320 | 1 | 241513659 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | 1 | 241502490 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.160 | 2 | 54972426 | 3 prime UTR variant | -/TTA | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 4 | 44530629 | upstream gene variant | T/- | delins | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 48374339 | intron variant | C/T | snv | 9.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 53140760 | intron variant | A/C | snv | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 53718356 | intron variant | C/T | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 |