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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.710 | 1.000 | 5 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.040 | 19 | 33302164 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 2001 | 2013 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.800 | 5 | 2006 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.750 | 4 | 2006 | 2013 | ||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.700 | 1.000 | 4 | 2011 | 2014 | |||||
|
13 | 0.742 | 0.040 | 2 | 208248468 | synonymous variant | G/A | snv | 5.1E-02 | 6.8E-02 | 0.040 | 0.750 | 4 | 2010 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 5073742 | missense variant | G/C | snv | 0.810 | 1.000 | 4 | 2006 | 2019 | |||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 4 | 2010 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 13 | 28018483 | missense variant | T/C | snv | 2.4E-05 | 1.4E-05 | 0.710 | 1.000 | 4 | 2005 | 2014 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 0.750 | 4 | 2011 | 2014 | |||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2014 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 21 | 34880579 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018484 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28027236 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 28028205 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28028279 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28033974 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2014 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2001 | 2005 | |||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.030 | 1.000 | 3 | 2009 | 2015 |