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 | 69368539 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 10 | 69369252 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1 | 226888954 | missense variant | A/G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 206116696 | missense variant | C/G;T | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 161419040 | missense variant | A/G | snv | 0.700 | 0 |