| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 19 | 38457545 | missense variant | C/G;T | snv | 8.7E-05 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
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 | ||||||||
|
0.882 | 0.120 | 19 | 38494579 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.925 | 0.040 | 19 | 38499655 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.160 | 19 | 38496283 | missense variant | C/G;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.080 | 19 | 38448712 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.040 | 19 | 38499993 | missense variant | G/A | snv | 3.2E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.080 | 1 | 237791441 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.040 | 19 | 38494621 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.040 | 19 | 38499731 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.120 | 19 | 38584989 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 19 | 38525455 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
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 | |||||||||||
|
15 | 74747272 | upstream gene variant | T/- | del | 0.23 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 0.040 | 22 | 24447626 | intron variant | C/G | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.120 | 1 | 237377386 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.200 | 14 | 64227153 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
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 |