| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 100168166 | intron variant | T/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100855586 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
7 | 100889133 | missense variant | G/C | snv | 0.15 | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
7 | 100895738 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
1.000 | 0.040 | 14 | 102193651 | intron variant | T/C | snv | 9.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 103891899 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 105501233 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 10662447 | intron variant | C/T | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
16 | 10717830 | upstream gene variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 108411746 | non coding transcript exon variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 116806519 | upstream gene variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 118238495 | intron variant | T/A | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 118252898 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
6 | 118370989 | regulatory region variant | G/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 6 | 120626545 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 121427396 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 121437366 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 121793305 | intergenic variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 121824888 | intergenic variant | C/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
6 | 121846992 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
3 | 122371255 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 12237634 | intron variant | C/- | delins | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 125516460 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 127329992 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 3 | 128242335 | intron variant | T/A | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |