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 | 22 | 50440498 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 88484745 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 113987029 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 26338309 | intron variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 32695620 | intergenic variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 19217423 | intergenic variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 11938077 | intron variant | AATA/-;AATAAATA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 19 | 19283559 | intron variant | A/G | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 8276406 | upstream gene variant | CAA/- | delins | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 25442718 | intron variant | -/A | delins | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 202943809 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 2256917 | missense variant | A/C;G | snv | 1.9E-03 | 2.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 11 | 116817950 | upstream gene variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 88514388 | missense variant | C/A;T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 32500061 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 126348646 | 3 prime UTR variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 132490359 | intron variant | A/G | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 157050820 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 32402471 | 3 prime UTR variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 72608525 | intergenic variant | T/A | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 72902905 | intergenic variant | G/T | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 22472830 | intron variant | G/A | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 202624734 | upstream gene variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 122850511 | missense variant | G/A | snv | 0.53 | 0.54 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 7 | 146721168 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |