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 | 10 | 118867050 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 10 | 103138228 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 9 | 134060541 | intron variant | G/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 8 | 89644760 | intron variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 4 | 54228462 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 8 | 127736777 | intron variant | G/T | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 89688709 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 10 | 44376100 | intron variant | G/A;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 1869979 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 71028147 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 36503205 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 36493896 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.120 | 1 | 206783747 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 5 | 113384697 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 13 | 80057282 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | |||
|
4 | 0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 21 | 34799310 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 21 | 34859477 | stop gained | G/A | snv | 0.700 | 0 |