Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2005 | 2011 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 13 | 2004 | 2016 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2014 | 2017 | |||||
|
6 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 17 | 43063370 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||
|
2 | 1.000 | 13 | 32340367 | frameshift variant | ATAG/- | delins | 0.700 | 0 | |||||||||
|
3 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 0.700 | 0 | |||||||||
|
3 | 1.000 | 13 | 32336621 | stop gained | C/G;T | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 13 | 32339317 | stop gained | T/A | snv | 0.700 | 0 | |||||||||
|
6 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2012 | |||||||
|
1 | 6 | 152094402 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 6 | 152098782 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 152098785 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
3 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
1 | 15 | 28260829 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |