| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 23396676 | intron variant | G/A;C | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
6 | 121427396 | intergenic variant | A/G;T | 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 | |||||||||
|
1.000 | 0.080 | 12 | 24617944 | intergenic variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
5 | 179741096 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
14 | 23507801 | intron variant | A/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1 | 207955377 | upstream gene variant | G/A | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 6 | 118252898 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
7 | 100855586 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
5 | 179708814 | intron variant | C/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
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 | ||||||||||
|
2 | 178975161 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
12 | 20319268 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 231404173 | downstream gene variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 121846992 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
14 | 72418763 | intron variant | G/C | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
14 | 85330220 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
11 | 61784455 | non coding transcript exon variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
7 | 100895738 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
7 | 93921103 | upstream gene variant | G/C | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 33529470 | intergenic variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 2075300 | intron variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2018 |