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 | 36286661 | intron variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 22 | 17237716 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 21 | 45253853 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | 20 | 37674643 | upstream gene variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 37710922 | intron variant | G/C | snv | 0.16 | 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 | ||||
|
2 | 1.000 | 0.080 | 20 | 959154 | 3 prime UTR variant | C/T | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 20 | 12281822 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 288517 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 20 | 37843596 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 19 | 38761240 | intron variant | C/A;G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 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 | 17 | 81050837 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 17 | 13726414 | regulatory region variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 26440122 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 69282015 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 1003856 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 15 | 39602982 | intron variant | A/T | snv | 8.3E-03 | 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 |