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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 100203265 | intron variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 100443115 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 10 | 1019770 | stop gained | C/T | snv | 5.0E-02 | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 102517336 | intron variant | G/A | snv | 8.2E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 102640552 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
X | 106773038 | missense variant | A/T | snv | 5.8E-03 | 5.2E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 109348511 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 1 | 109457216 | intergenic variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1 | 109471548 | intron variant | G/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 109822897 | intron variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 10 | 1110225 | intron variant | T/C | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 112706169 | 5 prime UTR variant | C/A;G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 2 | 113209498 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
9 | 116501829 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 12053630 | intron variant | G/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
6 | 120868656 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
2 | 121281207 | missense variant | G/A | snv | 6.8E-03 | 2.9E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 1245559 | regulatory region variant | A/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 1253374 | intergenic variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 129359392 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 131561431 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |