| 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 | 26539480 | intron variant | T/C | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 163324702 | 3 prime UTR variant | A/G | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 173965395 | downstream gene variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 65048915 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
8 | 71495139 | intron variant | G/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 19970337 | downstream gene variant | C/A | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
15 | 86311359 | intron variant | A/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
2 | 101025798 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
2 | 238975165 | regulatory region variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 158000430 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
4 | 87128698 | intron variant | T/C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 19609015 | intron variant | C/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
8 | 11919395 | downstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2009 | 2018 |