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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719736 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719739 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719667 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 7674245 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 74540276 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 17 | 7675070 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 17 | 7675139 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 10 | 87933121 | missense variant | C/G | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
42 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.040 | 17 | 7673730 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2005 | 2007 | |||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
8 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.040 | 5 | 7878128 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |