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 | 10 | 99830363 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 46399999 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 14 | 54893485 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 0.925 | 0.080 | 4 | 158703436 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.763 | 0.200 | 2 | 113116890 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 1.000 | 0.080 | 7 | 22721094 | intron variant | A/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 5 | 40764955 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 8 | 26866167 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 18 | 77246982 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 13 | 95283335 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 117230720 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2008 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 |