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 | 1.000 | 0.080 | 11 | 104954748 | splice region variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 5 | 139317091 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 16 | 1792123 | missense variant | T/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 62352594 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 16 | 56633404 | splice region variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 22 | 29272423 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 42784401 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.080 | 6 | 7230458 | missense variant | C/T | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 22 | 29297869 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 56658739 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 17 | 35844353 | missense variant | C/G;T | snv | 8.0E-06; 2.7E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 16 | 31183971 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 104333966 | intron variant | G/C | snv | 0.93 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.807 | 0.120 | 6 | 159692661 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 1 | 170046818 | synonymous variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 12 | 104313402 | intron variant | A/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 17 | 35844483 | missense variant | G/A | snv | 5.6E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 6 | 159688144 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 16 | 56667313 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 17 | 7579971 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 35844338 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 6 | 151842617 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.080 | 16 | 1792237 | missense variant | T/C | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 7 | 76302821 | missense variant | C/G;T | snv | 3.9E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 22 | 37103352 | synonymous variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 |