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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.923 | 0.071 | 18 | 53526629 | missense variant | C/A,G,T | snp | 4.0E-06; 8.0E-06 | 3.2E-05 | 0.700 | 1 | 1994 | 1994 | ||||
|
1 | 1.000 | 0.071 | 5 | 112838262 | missense variant | G/A | snp | 8.0E-06 | 0.700 | 1 | 1998 | 1998 | |||||
|
267 | 0.407 | 0.786 | 7 | 140753336 | missense variant | snp | 4.0E-06 | 0.100 | 0.951 | 82 | 2005 | 2018 | |||||
|
31 | 0.657 | 0.393 | 5 | 112839514 | missense variant | T/A | snp | 2.0E-03; 8.0E-06 | 6.4E-04 | 0.100 | 0.708 | 24 | 1998 | 2006 | |||
|
169 | 0.457 | 0.714 | 1 | 11794407 | missense variant | T/G | snp | 0.100 | 0.813 | 16 | 2002 | 2018 | |||||
|
77 | 0.533 | 0.643 | 3 | 9757089 | missense variant | C/G | snp | 0.27 | 0.22 | 0.100 | 0.714 | 14 | 2005 | 2017 | |||
|
70 | 0.559 | 0.393 | 12 | 25245350 | missense variant | C/A,G,T | snp | 4.0E-06 | 0.100 | 0.923 | 13 | 1999 | 2017 | ||||
|
119 | 0.485 | 0.679 | 19 | 43551574 | missense variant | T/C | snp | 0.68 | 0.72 | 0.100 | 0.923 | 13 | 2000 | 2015 | |||
|
24 | 0.667 | 0.214 | 8 | 127401060 | non coding transcript exon variant | G/T | snp | 0.38 | 0.100 | 1.000 | 13 | 2008 | 2015 | ||||
|
100 | 0.510 | 0.679 | 11 | 67585218 | missense variant | A/G | snp | 0.34 | 0.35 | 0.100 | 1.000 | 12 | 2002 | 2015 | |||
|
12 | 0.769 | 0.107 | 18 | 48927093 | intron variant | T/A,C | snp | 0.56 | 0.100 | 1.000 | 12 | 2008 | 2018 | ||||
|
12 | 0.756 | 0.179 | 5 | 112839543 | missense variant | G/C | snp | 4.4E-03 | 4.3E-03 | 0.090 | 0.778 | 9 | 2000 | 2016 | |||
|
6 | 0.846 | 0.143 | 11 | 111300984 | intron variant | C/A | snp | 0.70 | 0.090 | 1.000 | 9 | 2011 | 2015 | ||||
|
77 | 0.543 | 0.679 | 3 | 12351626 | missense variant | C/G | snp | 0.11 | 1.0E-01 | 0.080 | 0.875 | 8 | 2003 | 2010 | |||
|
75 | 0.545 | 0.679 | 3 | 12379739 | missense variant | C/G | snp | 0.080 | 0.875 | 8 | 2003 | 2010 | |||||
|
20 | 0.692 | 0.179 | 1 | 45332803 | missense variant | T/C | snp | 1.5E-03 | 1.6E-03 | 0.080 | 1.000 | 8 | 2003 | 2015 | |||
|
108 | 0.520 | 0.714 | 7 | 87509329 | synonymous variant | A/G,T | snp | 0.50 | 0.56 | 0.070 | 1.000 | 7 | 2008 | 2018 | |||
|
17 | 0.699 | 0.286 | 12 | 25245347 | missense variant | snp | 0.070 | 1.000 | 7 | 2005 | 2015 | ||||||
|
45 | 0.590 | 0.500 | 14 | 20456995 | missense variant | T/A,C,G | snp | 4.0E-06; 4.0E-06; 0.42 | 0.44 | 0.070 | 1.000 | 7 | 2008 | 2017 | |||
|
86 | 0.533 | 0.714 | 1 | 11796321 | missense variant | G/A | snp | 0.31 | 0.26 | 0.070 | 1.000 | 7 | 2006 | 2018 | |||
|
20 | 0.699 | 0.214 | 1 | 45331556 | missense variant | C/T | snp | 3.0E-03 | 3.3E-03 | 0.070 | 1.000 | 7 | 2004 | 2011 | |||
|
117 | 0.492 | 0.679 | 17 | 7676040 | missense variant | C/A,G,T | snp | 4.8E-05 | 3.2E-05 | 0.060 | 0.833 | 6 | 2006 | 2013 | |||
|
82 | 0.525 | 0.536 | 19 | 45351661 | stop gained | T/A,G | snp | 4.0E-06; 0.32 | 0.32 | 0.060 | 1.000 | 6 | 2005 | 2011 | |||
|
33 | 0.615 | 0.321 | 22 | 28725099 | missense variant | A/C,G | snp | 4.1E-03 | 1.1E-02 | 0.060 | 0.833 | 6 | 2006 | 2013 | |||
|
49 | 0.599 | 0.607 | 1 | 11794419 | missense variant | T/G | snp | 0.29 | 0.26 | 0.060 | 1.000 | 6 | 2010 | 2018 |