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 | 19 | 58170494 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||||
|
1 | 7 | 44561096 | downstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 6 | 16108932 | downstream gene variant | A/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 1 | 234713592 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 2 | 62728252 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 20 | 41095698 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 8 | 54509880 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 1043282 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 75794012 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 48916690 | intron variant | A/G | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 160368267 | intron variant | G/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 35777511 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 122634009 | regulatory region variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 68020885 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 73733661 | upstream gene variant | -/CA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 11 | 116779922 | intron variant | C/T | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 122507441 | intron variant | AA/-;A;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 19 | 11080521 | downstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 41884157 | upstream gene variant | T/C | snv | 8.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 80898191 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 25434429 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 19 | 44816374 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 25449191 | intron variant | A/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 55055522 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 11086585 | upstream gene variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 |