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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
13 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 132481024 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 5 | 112737780 | intron variant | T/C | snv | 5.4E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 112707537 | 5 prime UTR variant | C/T | snv | 4.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 112707566 | 5 prime UTR variant | C/T | snv | 7.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
19 | 0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 112737543 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2002 | 2006 | |||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.827 | 0.080 | 6 | 38761760 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
16 | 0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.724 | 0.360 | 6 | 152098960 | synonymous variant | G/A | snv | 0.19 | 0.18 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2006 | 2009 |