| 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 | 5 | 65249673 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | |||||||
|
1 | 6 | 136024992 | intron variant | C/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 6 | 31791154 | intron variant | A/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 1.000 | 0.080 | 6 | 135098493 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 7 | 80545045 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 31695649 | intron variant | G/C | snv | 0.70 | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 7 | 50218883 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.851 | 0.240 | 7 | 95326216 | upstream gene variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 8 | 26368897 | intron variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 68651460 | intron variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 2809077 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 9 | 9797383 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 9 | 114371911 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 33117967 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
1 | 10 | 99372525 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 17933413 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 110871498 | non coding transcript exon variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 17693720 | intron variant | T/C | snv | 3.4E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 10 | 98367794 | regulatory region variant | G/A | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 |