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 | 0.040 | 5 | 77247778 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 181238244 | splice region variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 43837765 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 7 | 4745498 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 8 | 118939661 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 19 | 4837545 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 112027325 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 67327488 | intron variant | C/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.280 | 6 | 408079 | 3 prime UTR variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 31107598 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 97779894 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 9 | 97794690 | intron variant | A/G | snv | 0.72 | 0.710 | 1.000 | 3 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 62297443 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 165633546 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 62292578 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.160 | 10 | 87864509 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 23544021 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 19534612 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 161213814 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 |