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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 63827978 | intron variant | A/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 78153241 | intron variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 55893718 | intron variant | A/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 45229181 | 3 prime UTR variant | A/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 43626818 | intron variant | T/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 55968561 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 7800879 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
12 | 28130254 | upstream gene variant | -/T | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
14 | 92651884 | missense variant | C/T | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
9 | 136202959 | synonymous variant | C/G;T | snv | 7.9E-06; 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 91575945 | regulatory region variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 158564670 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 150614495 | intron variant | G/A | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
14 | 92019537 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
9 | 136210985 | intron variant | G/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 136362959 | intron variant | T/C | snv | 0.48 | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 3 | 67401619 | intron variant | C/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 120683279 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 158523978 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118319448 | regulatory region variant | TATA/-;TA;TATATA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
12 | 28536581 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 27492144 | intron variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 46115224 | intron variant | T/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 184295785 | intron variant | A/C;G | snv | 4.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 6652254 | intergenic variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |