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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 184302007 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||||
|
22 | 40861433 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.120 | 1 | 165682137 | missense variant | A/G | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/- | del |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.160 | X | 154536168 | missense variant | G/C | snv | 1.7E-04 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/A | delins |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.763 | 0.240 | 16 | 13932175 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
5 | 112837677 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
5 | 112837554 | missense variant | C/A;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
1.000 | 0.160 | 3 | 37048919 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2000 | 2005 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
16 | 11915447 | missense variant | C/A | snv | 0.48 | 0.43 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.160 | 12 | 57470802 | stop gained | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 19 | 45364065 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.280 | 13 | 108210371 | missense variant | C/T | snv | 1.6E-04 | 2.1E-04 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |