| 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 | 0.080 | 1 | 237441382 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 237377426 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 4 | 178481702 | intergenic variant | T/A | snv | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 203166324 | 3 prime UTR variant | C/T | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 19 | 38494621 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.040 | 19 | 38499655 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.040 | 19 | 38499731 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.040 | 19 | 38584976 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.807 | 0.160 | 15 | 74745879 | upstream gene variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 15 | 74741059 | intergenic variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
12 | 11037367 | intron variant | G/C | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
12 | 40099614 | intron variant | G/A;C | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 24439073 | intron variant | TTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
15 | 74747272 | upstream gene variant | T/- | del | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 0.040 | 22 | 24430704 | intron variant | T/C | snv | 0.62 |
|
0.010 | < 0.001 | 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 | ||||||||
|
1.000 | 0.040 | 22 | 24447626 | intron variant | C/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |