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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 121837124 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1 | 207851475 | intron variant | C/T | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 14 | 23392602 | missense variant | A/G | snv | 0.34 | 0.45 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
7 | 15296311 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 76083176 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
21 | 42082652 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 9581767 | downstream gene variant | C/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 82153198 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 37238541 | intergenic variant | G/T | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 121810339 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
12 | 110717726 | downstream gene variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 207767508 | non coding transcript exon variant | T/A | snv | 9.3E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 118346359 | intergenic variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 6 | 121460244 | intergenic variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 207955720 | upstream gene variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 6846127 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 231406573 | regulatory region variant | A/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 100899511 | upstream gene variant | A/G | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 177815704 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 121409576 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.080 | 12 | 24617944 | intergenic variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 178856319 | missense variant | G/A | snv | 6.0E-02 | 6.1E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
14 | 85343567 | intergenic variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
7 | 93920284 | upstream gene variant | T/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |