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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
39 | 0.615 | 0.321 | 12 | 25245351 | missense variant | C/A,G,T | snp | 0.720 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.071 | 19 | 1220489 | missense variant | A/T | snp | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.071 | 11 | 111766340 | missense variant | C/G | snp | 2.0E-04 | 3.1E-04 | 0.700 | 0 | ||||||
|
4 | 0.846 | 0.107 | 11 | 111764842 | missense variant | C/T | snp | 6.5E-03 | 6.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.846 | 0.214 | 3 | 10142113 | missense variant | T/A,C | snp | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.071 | 11 | 111743419 | missense variant | T/C | snp | 4.0E-06 | 0.700 | 0 | |||||||
|
29 | 0.667 | 0.321 | 7 | 55181378 | missense variant | C/T | snp | 2.8E-05 | 9.6E-05 | 0.100 | 0.965 | 57 | 2006 | 2018 | |||
|
33 | 0.642 | 0.321 | 7 | 55191822 | missense variant | T/A,G | snp | 0.100 | 1.000 | 22 | 2005 | 2018 | |||||
|
119 | 0.485 | 0.679 | 19 | 43551574 | missense variant | T/C | snp | 0.68 | 0.72 | 0.100 | 0.905 | 21 | 2003 | 2015 | |||
|
77 | 0.533 | 0.643 | 3 | 9757089 | missense variant | C/G | snp | 0.27 | 0.22 | 0.100 | 0.875 | 16 | 2000 | 2014 | |||
|
53 | 0.572 | 0.571 | 15 | 74720644 | missense variant | T/C | snp | 0.11 | 5.0E-02 | 0.100 | 1.000 | 14 | 1999 | 2014 | |||
|
84 | 0.523 | 0.607 | 19 | 43553422 | stop gained | G/A | snp | 9.5E-02 | 7.1E-02 | 0.100 | 0.857 | 14 | 2001 | 2015 | |||
|
82 | 0.525 | 0.536 | 19 | 45351661 | stop gained | T/A,G | snp | 4.0E-06; 0.32 | 0.32 | 0.100 | 1.000 | 12 | 2003 | 2015 | |||
|
20 | 0.699 | 0.214 | 15 | 78590583 | missense variant | G/A | snp | 0.26 | 0.24 | 0.100 | 0.917 | 12 | 2008 | 2016 | |||
|
60 | 0.561 | 0.464 | 14 | 103699416 | missense variant | G/A | snp | 0.29 | 0.29 | 0.100 | 0.917 | 12 | 2007 | 2015 | |||
|
117 | 0.492 | 0.679 | 17 | 7676040 | missense variant | C/A,G,T | snp | 4.8E-05 | 3.2E-05 | 0.100 | 0.909 | 11 | 2001 | 2015 | |||
|
19 | 0.715 | 0.250 | 15 | 78601997 | synonymous variant | G/A | snp | 0.27 | 0.26 | 0.100 | 1.000 | 10 | 2008 | 2013 | |||
|
100 | 0.510 | 0.679 | 11 | 67585218 | missense variant | A/G | snp | 0.34 | 0.35 | 0.100 | 0.600 | 10 | 1999 | 2013 | |||
|
52 | 0.596 | 0.571 | 5 | 1286401 | intron variant | C/A | snp | 0.53 | 0.090 | 1.000 | 9 | 2010 | 2015 | ||||
|
51 | 0.585 | 0.500 | 19 | 45364001 | missense variant | C/A,T | snp | 7.1E-06; 0.29 | 0.27 | 0.080 | 1.000 | 8 | 2001 | 2012 | |||
|
45 | 0.590 | 0.500 | 14 | 20456995 | missense variant | T/A,C,G | snp | 4.0E-06; 4.0E-06; 0.42 | 0.44 | 0.060 | 1.000 | 6 | 2004 | 2014 | |||
|
70 | 0.559 | 0.393 | 12 | 25245350 | missense variant | C/A,G,T | snp | 4.0E-06 | 0.060 | 1.000 | 6 | 2010 | 2017 | ||||
|
48 | 0.587 | 0.571 | 19 | 43552260 | stop lost | C/G,T | snp | 8.5E-06; 7.1E-02 | 3.2E-05; 5.5E-02 | 0.060 | 0.667 | 6 | 2001 | 2014 | |||
|
81 | 0.536 | 0.643 | 6 | 159692840 | missense variant | A/G | snp | 0.48 | 0.47 | 0.060 | 0.667 | 6 | 2007 | 2014 | |||
|
267 | 0.407 | 0.786 | 7 | 140753336 | missense variant | snp | 4.0E-06 | 0.050 | 1.000 | 5 | 2011 | 2016 |