| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 16256743 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 5 | 75741470 | intergenic variant | C/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 16 | 656067 | non coding transcript exon variant | G/A | snv | 0.57 | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 16 | 51724205 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 17 | 7549660 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 3 | 169381073 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 3 | 169381003 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122391302 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 7448306 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 138392909 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 3 | 56667300 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 122398816 | intron variant | A/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 56692618 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 53541701 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.160 | 3 | 41871159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
4 | 3 | 53556438 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 3 | 53601568 | intron variant | T/G | snv | 0.51 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 4 | 137488981 | intergenic variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 40254542 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 5 | 149011577 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
2 | 8 | 9946782 | intergenic variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 22090936 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 7 | 156519051 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 |