| 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 | 20 | 12281822 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 38761240 | intron variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 86078634 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 85495401 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 57273491 | intron variant | G/A | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 65741731 | synonymous variant | A/C | snv | 2.6E-02 | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 7 | 71678504 | intron variant | C/A | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 87284961 | intergenic variant | A/C | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 223083837 | intron variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 188507189 | intron variant | G/A;T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 104410836 | regulatory region variant | G/C | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 22 | 36286661 | intron variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 73264813 | intergenic variant | T/C | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 51233341 | intergenic variant | G/A | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 51259335 | intergenic variant | T/C | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
11 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 88777238 | intron variant | A/C | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 121024223 | intergenic variant | C/G | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 37674643 | upstream gene variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 37698121 | intron variant | A/G | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 37675713 | upstream gene variant | G/A | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 5270506 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 97119552 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.080 | 20 | 37758210 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 |