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 | 0.040 | 6 | 161785793 | missense variant | C/G | snv | 1.2E-05 | 0.810 | 1.000 | 2 | 2013 | 2016 | ||||
|
10 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 0.800 | 1.000 | 33 | 1998 | 2015 | ||||
|
4 | 0.882 | 0.160 | 6 | 161973317 | missense variant | G/A;C;T | snv | 3.7E-04; 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 32 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 162201182 | missense variant | T/A | snv | 0.800 | 1.000 | 21 | 1998 | 2013 | |||||
|
3 | 0.882 | 0.120 | 6 | 161973401 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 21 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 161973403 | missense variant | T/A | snv | 2.0E-05 | 0.800 | 1.000 | 21 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 161350205 | missense variant | C/A | snv | 0.800 | 1.000 | 21 | 1998 | 2013 | |||||
|
1 | 1.000 | 0.040 | 6 | 162262692 | missense variant | G/A;T | snv | 8.0E-06; 3.6E-03 | 0.800 | 1.000 | 21 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 161350208 | missense variant | C/T | snv | 6.0E-05 | 1.3E-04 | 0.800 | 1.000 | 12 | 2004 | 2015 | |||
|
2 | 0.925 | 0.040 | 6 | 162443383 | missense variant | C/A;G;T | snv | 4.0E-06; 8.8E-05 | 0.800 | 1.000 | 9 | 2005 | 2016 | ||||
|
4 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 0.720 | 1.000 | 23 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 161569357 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.040 | 6 | 162443314 | missense variant | A/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 21 | 1998 | 2013 | |||
|
1 | 1.000 | 0.040 | 6 | 161350187 | missense variant | G/A | snv | 1.6E-03 | 2.2E-03 | 0.700 | 1.000 | 21 | 1998 | 2013 | |||
|
1 | 1.000 | 0.040 | 6 | 161360169 | missense variant | G/A | snv | 1.9E-03 | 1.9E-03 | 0.700 | 1.000 | 21 | 1998 | 2013 | |||
|
1 | 1.000 | 0.040 | 6 | 162443371 | missense variant | G/A | snv | 1.9E-04 | 2.4E-04 | 0.700 | 1.000 | 20 | 1998 | 2011 | |||
|
3 | 0.882 | 0.040 | 6 | 161785877 | missense variant | G/A | snv | 4.2E-04 | 4.5E-04 | 0.700 | 1.000 | 20 | 1998 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 162443438 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 162262662 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 20 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 161360129 | missense variant | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 161350176 | missense variant | A/G | snv | 5.2E-05 | 0.700 | 1.000 | 20 | 1998 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 162443326 | frameshift variant | T/- | delins | 3.1E-04 | 0.700 | 1.000 | 11 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 161973301 | splice donor variant | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 6 | 162054135 | start lost | T/A;G | snv | 4.0E-06; 4.4E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 161350139 | stop gained | C/T | snv | 0.700 | 0 |