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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 11 | 116836210 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 177091064 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 2 | 8806360 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 19 | 11113322 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 1.000 | 0.040 | 1 | 153947810 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
8 | 0.827 | 0.120 | 19 | 44908783 | missense variant | C/T | snv | 1.4E-03 | 6.9E-03 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
8 | 0.776 | 0.200 | 19 | 44907799 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
7 | 0.925 | 0.080 | 2 | 21028042 | missense variant | G/A | snv | 0.49 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.925 | 0.120 | 2 | 21008652 | missense variant | G/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 1 | 11850620 | upstream gene variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 15 | 58541794 | missense variant | G/A;T | snv | 7.1E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
9 | 0.790 | 0.200 | 19 | 44908705 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 0.500 | 2 | 2001 | 2003 | |||
|
35 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.160 | 15 | 73327969 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2003 | 2003 |