| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.200 | 13 | 32376769 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 13 | 32338616 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.080 | 18 | 63318285 | missense variant | C/T | snv | 2.4E-05 |
|
0.030 | 1.000 | 3 | 2002 | 2004 | ||||||||
|
0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||||
|
0.851 | 0.120 | 14 | 20456008 | missense variant | G/C | snv | 2.1E-02 | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.200 | 10 | 125773956 | missense variant | A/G | snv | 0.76 | 0.78 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||||
|
0.827 | 0.240 | 17 | 43092418 | missense variant | T/C;G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 13 | 32391173 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 17 | 43071031 | missense variant | A/G | snv | 1.5E-03 | 9.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 11 | 101128246 | synonymous variant | G/A | snv | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 43091520 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.851 | 0.200 | 13 | 32319323 | stop gained | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.160 | 1 | 154966186 | missense variant | T/A;C | snv | 4.0E-06; 4.1E-02 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 43091811 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.882 | 0.080 | 12 | 6846892 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 19 | 54982809 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 2 | 214728724 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 21 | 42282350 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |