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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 28018503 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 47101485 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 47123837 | missense variant | C/T | snv | 8.9E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 47122353 | missense variant | C/T | snv | 4.2E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 9 | 37002705 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2001 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2015 | |||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 | 0.810 | 1.000 | 5 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 0.820 | 1.000 | 4 | 2009 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2003 | 2012 | ||||
|
7 | 0.790 | 0.120 | 10 | 61950345 | intron variant | A/G | snv | 0.49 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
12 | 0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 50498129 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.752 | 0.320 | 10 | 8062245 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2015 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 47121125 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
10 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 | 0.710 | 1.000 | 2 | 2013 | 2017 |