| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2010 | ||||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 18 | 63318618 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 3 | 169143780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 1 | 182584103 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 17 | 42344145 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.716 | 0.440 | 8 | 18400344 | missense variant | T/C | snv | 0.38 | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 12 | 11869532 | missense variant | G/A;T | snv | 2.4E-05; 6.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.120 | 22 | 43001030 | intron variant | C/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 21 | 34834544 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |