| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 14 | 89568628 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 4 | 1999 | 2017 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 68270365 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv |
|
0.720 | 1.000 | 8 | 1998 | 2016 | |||||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2000 | 2016 | ||||||||
|
0.925 | 0.040 | 11 | 17387395 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
1.000 | 0.040 | 14 | 100728224 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.320 | 14 | 55138217 | missense variant | C/A;G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv |
|
0.700 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2015 | |||||||||
|
0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 |
|
0.700 | 1.000 | 7 | 1997 | 2014 | ||||||||
|
0.851 | 0.080 | 7 | 44153381 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 6 | 2002 | 2014 |