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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.900 | 0.933 | 15 | 2005 | 2019 | |||
|
1 | 1.000 | 0.040 | 11 | 64340005 | upstream gene variant | T/C | snv | 0.27 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 80151969 | 3 prime UTR variant | C/T | snv | 0.37 | 0.800 | 1.000 | 2 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 32481634 | intergenic variant | T/C | snv | 0.34 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
4 | 0.882 | 0.160 | 10 | 80166946 | missense variant | G/A;C | snv | 0.42; 4.2E-06 | 0.770 | 1.000 | 7 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 80148128 | downstream gene variant | A/T | snv | 0.37 | 0.720 | 1.000 | 3 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 80158285 | intron variant | G/A | snv | 0.36 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
8 | 0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 32460995 | intron variant | A/G | snv | 0.38 | 0.710 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 32222064 | intron variant | T/A;G | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
5 | 0.827 | 0.200 | 6 | 32373576 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 25849519 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 25854100 | intron variant | T/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.240 | 6 | 27566749 | intergenic variant | A/G | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 32378632 | intron variant | AGATAGAT/-;AGAT;AGATAGATAGAT;AGATAGATAGATAGAT;AGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGATAGAT | delins | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 25855238 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 6 | 32812947 | 3 prime UTR variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 33606422 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 32587108 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32465348 | intron variant | A/C | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32482426 | intergenic variant | C/T | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32485791 | intergenic variant | C/T | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32623583 | upstream gene variant | G/C | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32633427 | intron variant | C/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |