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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 12 | 55693209 | missense variant | C/T | snv | 4.3E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
25 | 0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 | 0.810 | 1.000 | 5 | 2002 | 2013 | ||||
|
4 | 0.851 | 0.160 | 19 | 38573304 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 38566953 | stop gained | G/A;C;T | snv | 3.4E-05 | 0.700 | 0 | |||||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 19 | 38543420 | stop gained | C/A | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 19 | 38519399 | missense variant | T/G | snv | 2.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 19 | 38523211 | splice region variant | C/G | snv | 2.0E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
25 | 0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.700 | 0 | ||||||
|
25 | 0.742 | 0.360 | 1 | 25811710 | missense variant | G/A;C;T | snv | 4.3E-06; 4.3E-06; 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 38485988 | stop gained | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 19 | 38523116 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 229433100 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 19 | 38451846 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 1 | 154172972 | missense variant | G/A;C | snv | 0.810 | 1.000 | 19 | 2002 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 154176194 | missense variant | G/C;T | snv | 0.810 | 1.000 | 6 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 154176220 | missense variant | C/G | snv | 0.810 | 1.000 | 5 | 2008 | 2018 | |||||
|
4 | 0.851 | 0.080 | 1 | 154172971 | missense variant | C/T | snv | 0.810 | 1.000 | 4 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 154192008 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 154172969 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 154172953 | missense variant | T/G | snv | 0.700 | 1.000 | 4 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 154170454 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2008 | 2014 |