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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 12 | 57450266 | 3 prime UTR variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 39387196 | intron variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 5 | 2013 | 2019 | |||||||
|
4 | 76476862 | intron variant | A/G | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 73673773 | intron variant | T/C;G | snv | 0.21; 3.9E-05 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 73641201 | missense variant | A/G | snv | 0.21 | 0.31 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
15 | 45426989 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
4 | 76489165 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 5 | 177390635 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
1 | 102260843 | intron variant | T/C | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.080 | 20 | 46659814 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 9 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 16 | 20381010 | intron variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 7 | 2016 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 7 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 |
|
0.700 | 1.000 | 6 | 2016 | 2019 | ||||||||
|
0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 6 | 2016 | 2019 | |||||||||
|
20 | 54115823 | intergenic variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 160247357 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | |||||||||
|
0.925 | 0.120 | 18 | 79396537 | intron variant | C/G | snv | 0.39 |
|
0.700 | 1.000 | 5 | 2016 | 2019 | ||||||||
|
7 | 151717243 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2016 | 2019 | |||||||||||
|
0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 30738788 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 3 | 2016 | 2019 |