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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 211744902 | 3 prime UTR variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 7053052 | intron variant | G/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 239648090 | intron variant | A/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 230083723 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 95020269 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1 | 95231973 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 95050081 | intron variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 187323476 | intron variant | A/C | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 230090639 | intron variant | G/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 94921652 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 73007303 | intron variant | T/C | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 163162632 | intergenic variant | T/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.925 | 0.080 | 2 | 168896905 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 2 | 170462384 | intron variant | A/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 221659167 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 133771520 | intergenic variant | G/A | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 146756888 | intergenic variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 3 | 146170670 | intergenic variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 142915027 | intron variant | G/C;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 0.925 | 0.080 | 3 | 3088537 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 3 | 170654068 | non coding transcript exon variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 78730706 | regulatory region variant | A/G | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 78758523 | intergenic variant | G/T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |