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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 3 | 148996462 | missense variant | G/C | snv | 1.0E-03 | 1.1E-03 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 12 | 21887879 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 201365657 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 21143872 | intron variant | C/G | snv | 4.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 66003356 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 20500800 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 14 | 23413792 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 67521867 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 17 | 18162600 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 18 | 37497065 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 1.000 | 18 | 31536370 | missense variant | T/G | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 11 | 77162134 | missense variant | G/A | snv | 1.9E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 1 | 74492217 | missense variant | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | X | 154380798 | missense variant | G/C | snv | 4.6E-04 | 2.1E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 69109674 | synonymous variant | A/C;G | snv | 8.1E-06; 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 44304659 | missense variant | G/A;C | snv | 3.6E-05; 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 23415095 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 10 | 74096084 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 1 | 160237145 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 7583572 | frameshift variant | A/- | del | 5.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 9 | 100585774 | missense variant | C/G;T | snv | 8.0E-06; 3.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 178782573 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 47347857 | missense variant | G/A;T | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 18 | 31089533 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 141625741 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |