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 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 33108491 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 32223562 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 20989760 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 2 | 169013785 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 48651222 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 11 | 94180526 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 65249673 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 7 | 80545045 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 17693720 | intron variant | T/C | snv | 3.4E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 109631385 | intergenic variant | G/T | snv | 1.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 4 | 78698045 | intergenic variant | C/A | snv | 5.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 94074274 | intron variant | C/T | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 18 | 61567782 | downstream gene variant | G/A | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 65395057 | intron variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 2809077 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 157229738 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |