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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 17 | 7673743 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
22 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.752 | 0.240 | 17 | 43094464 | missense variant | T/C | snv | 4.7E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
11 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | ||||
|
8 | 0.851 | 0.240 | 10 | 87957919 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
4 | 0.882 | 0.120 | 13 | 32380096 | stop gained | T/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2016 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
3 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
7 | 0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
1 | 7 | 55143387 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 7 | 55154050 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2008 | 2014 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 |