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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 133394232 | synonymous variant | C/A;G;T | snv | 9.2E-06; 9.2E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
11 | 35230997 | 3 prime UTR variant | G/A | snv | 6.8E-02 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||
|
22 | 28689135 | missense variant | C/A;G | snv | 4.3E-06 |
|
0.020 | 1.000 | 2 | 2006 | 2007 | ||||||||||
|
17 | 43095876 | missense variant | C/A;T | snv |
|
0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||||||
|
5 | 94600780 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 128209162 | intron variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 51148434 | intergenic variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 23153770 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 22907986 | missense variant | G/T | snv | 4.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 18340813 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 4922962 | intron variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 143268092 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 118394924 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 127395871 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
3 | 55162885 | downstream gene variant | C/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 46016407 | 3 prime UTR variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
13 | 32332560 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 5973425 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 23193334 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
21 | 34366284 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 83646407 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
11 | 23133679 | intergenic variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 130367629 | intron variant | G/T | snv | 4.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
17 | 49277423 | intron variant | A/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |