Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 12 | 116337891 | regulatory region variant | TTTTGTTTTG/-;TTTTG;TTTTGTTTTGTTTTG;TTTTGTTTTGTTTTGTTTTG | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 5 | 121330628 | intron variant | T/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 18 | 56523802 | intergenic variant | T/C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 4 | 175138126 | intron variant | G/T | snv | 9.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 66212157 | intergenic variant | A/T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 12 | 83692397 | intergenic variant | C/A;T | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 110589931 | intergenic variant | G/A;T | snv | 9.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 14 | 25573788 | intergenic variant | A/G | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 58871307 | intron variant | AAA/-;AA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 5 | 162064381 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 5 | 135540941 | upstream gene variant | A/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 5 | 36603282 | upstream gene variant | T/C | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 20 | 56719418 | intergenic variant | G/T | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 2 | 4007215 | intergenic variant | G/C | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 6294504 | intergenic variant | C/T | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 20 | 12310875 | intron variant | C/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 20 | 39961687 | regulatory region variant | T/C | snv | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 49932105 | intron variant | A/G | snv | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 68698339 | non coding transcript exon variant | G/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 15 | 35904724 | intergenic variant | T/C | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 166001974 | intergenic variant | T/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 40764791 | downstream gene variant | C/T | snv | 9.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |