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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 9 | 123762933 | intron variant | A/G | snv | 0.44 | 0.900 | 0.833 | 12 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 56769532 | intron variant | C/G;T | snv | 0.040 | 0.250 | 4 | 2006 | 2015 | |||||
|
8 | 0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 102172509 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.120 | 2 | 43334022 | intron variant | C/A | snv | 0.48 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 132477512 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 212529988 | intron variant | C/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2015 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 114078510 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.120 | 12 | 53423453 | upstream gene variant | A/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.120 | 2 | 88123239 | 3 prime UTR variant | G/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.120 | 19 | 7150407 | intron variant | C/G | snv | 0.75 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 48974473 | intron variant | C/T | snv | 0.53 | 0.810 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 65830681 | intron variant | A/C | snv | 2.1E-02 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 49020693 | intron variant | T/C | snv | 0.63 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 6666809 | intron variant | G/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.120 | 9 | 94979054 | intron variant | G/A | snv | 8.5E-02 | 0.810 | 1.000 | 2 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 55996852 | upstream gene variant | A/G | snv | 0.24 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.120 | 2 | 43334641 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 95318360 | synonymous variant | G/A | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 11766380 | upstream gene variant | A/T | snv | 0.72 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.120 | 15 | 68279141 | intron variant | T/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 2 | 43580926 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 2 | 43511034 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 4795277 | 3 prime UTR variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 |