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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.040 | 19 | 29702966 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 10 | 133366967 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 8 | 1991 | 2014 | |||
|
2 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 0.667 | 3 | 2009 | 2015 | ||||
|
13 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 9 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.925 | 0.080 | 19 | 29708415 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 19 | 53109614 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 1 | 32889110 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
1 | 11 | 2171856 | 5 prime UTR variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||
|
6 | 0.882 | 0.120 | 9 | 129813148 | 3 prime UTR variant | C/- | del | 0.16 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
2 | 1.000 | 0.080 | 9 | 129814062 | inframe deletion | CTC/- | delins | 4.9E-05 | 0.700 | 1.000 | 2 | 1997 | 1998 |