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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 6 | 26581807 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 2560680 | upstream gene variant | A/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 18 | 60194728 | upstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 50637155 | intron variant | C/T | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 16 | 31130672 | 3 prime UTR variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 26805992 | intergenic variant | C/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 34857885 | synonymous variant | T/C | snv | 0.13 | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 20 | 52365406 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 146194776 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 14 | 79473650 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 27645689 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 16 | 53794154 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 8 | 40782400 | intron variant | A/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.080 | 16 | 53770428 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 35156031 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |