| 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 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
2 | 64980940 | intron variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
16 | 72722202 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
18 | 31756628 | downstream gene variant | A/G | snv | 6.9E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.120 | 1 | 62485187 | 3 prime UTR variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 107268309 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 2 | 140268867 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 78663475 | intron variant | G/C | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 123610085 | intergenic variant | A/G | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 118641356 | intergenic variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 36032377 | intergenic variant | A/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 105603002 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 43848369 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
17 | 4779740 | intron variant | G/C | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 72779634 | regulatory region variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 14 | 94378506 | missense variant | T/G | snv | 0.28 | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 5 | 133861647 | regulatory region variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
1.000 | 0.080 | 4 | 88305270 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 8 | 71121190 | intron variant | A/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 2 | 140292500 | intron variant | G/A | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |