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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 16 | 86793733 | intergenic variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 6 | 31635814 | non coding transcript exon variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 16 | 20019510 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 22 | 21585386 | intron variant | G/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 240657733 | intergenic variant | G/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 6 | 31758911 | intron variant | C/A | snv | 0.34 | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 2 | 15722206 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.160 | 6 | 31876147 | intron variant | C/T | snv | 0.33 | 0.26 |
|
0.710 | 1.000 | 1 | 2015 | 2017 | |||||||
|
0.925 | 0.120 | 1 | 161509020 | intron variant | G/A | snv | 0.43 |
|
0.710 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 593968 | intergenic variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 5 | 135107916 | intron variant | G/A | snv | 0.32 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 107862996 | intergenic variant | A/C | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.776 | 0.080 | 10 | 99530544 | intron variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 2750246 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
1.000 | 0.040 | 2 | 198016944 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 2569899 | downstream gene variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2012 | 2017 |