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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 9 | 132927208 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 132923383 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 132921834 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.070 | 1.000 | 7 | 2001 | 2013 | |||
|
26 | 0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 | 0.020 | 1.000 | 2 | 2001 | 2013 | ||||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.120 | 7 | 17339533 | missense variant | G/A | snv | 7.8E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.040 | 1.000 | 4 | 2003 | 2017 | |||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.583 | 12 | 2004 | 2016 | |||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2014 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2004 | 2009 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2014 | ||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.120 | 14 | 72562470 | missense variant | G/A | snv | 9.0E-02 | 0.10 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
12 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.090 | 0.889 | 9 | 2005 | 2013 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.090 | 1.000 | 9 | 2005 | 2016 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2005 | 2013 | |||||
|
10 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
16 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2005 | |||
|
8 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
15 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
7 | 0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |