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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 |
|
0.900 | 0.938 | 1 | 2010 | 2019 | |||||||
|
0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 5 | 149524529 | intron variant | A/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 4 | 99307309 | 3 prime UTR variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.840 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
13 | 104386796 | intergenic variant | A/G | snv | 5.9E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 17 | 2268343 | intron variant | C/A | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | ||||||||
|
1.000 | 0.040 | 3 | 187075454 | intron variant | G/A | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 18 | 12821594 | intron variant | A/G | snv | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 |
|
0.820 | 1.000 | 1 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 99135847 | intron variant | A/G | snv | 1.1E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 50069823 | intron variant | C/T | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 22 | 28719078 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 41741012 | intergenic variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.880 | 1.000 | 1 | 2001 | 2019 | |||||||
|
1.000 | 0.080 | 3 | 175929377 | intergenic variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 22 | 28734024 | intron variant | T/C | snv | 0.67 |
|
0.810 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 15 | 68766745 | intergenic variant | T/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |