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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 12 | 49954663 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 1999 | 2010 | |||
|
3 | 0.882 | 0.080 | 12 | 49954171 | missense variant | C/A;T | snv | 4.1E-06; 2.5E-05 | 0.020 | 1.000 | 2 | 2001 | 2004 | ||||
|
4 | 0.851 | 0.080 | 12 | 49955564 | missense variant | G/A | snv | 0.030 | 0.667 | 3 | 1998 | 2009 | |||||
|
4 | 0.851 | 0.080 | 12 | 49954168 | missense variant | C/T | snv | 8.3E-06; 4.1E-06 | 2.1E-05 | 0.020 | 1.000 | 2 | 2002 | 2019 | |||
|
4 | 0.851 | 0.200 | 12 | 49954233 | missense variant | G/A | snv | 5.3E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.851 | 0.080 | 12 | 49954317 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.080 | 12 | 49955577 | missense variant | C/G;T | snv | 5.0E-06; 5.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.080 | X | 153905901 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153906059 | missense variant | G/T | snv | 0.710 | 1.000 | 21 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153906120 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153906113 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153905719 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
2 | 0.925 | 0.080 | X | 153906345 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153905759 | missense variant | G/A | snv | 0.710 | 0.952 | 21 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153906108 | missense variant | G/A | snv | 0.710 | 0.952 | 21 | 1992 | 2006 | |||||
|
3 | 0.882 | 0.240 | X | 153905916 | missense variant | G/A;T | snv | 5.7E-06 | 0.720 | 1.000 | 22 | 1992 | 2016 | ||||
|
2 | 0.925 | 0.080 | X | 153906047 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153905819 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
2 | 0.925 | 0.080 | X | 153905643 | missense variant | T/A;C | snv | 1.7E-05 | 0.700 | 1.000 | 20 | 1992 | 2006 | ||||
|
4 | 0.851 | 0.080 | X | 153905816 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2006 | |||||
|
1 | 1.000 | 0.080 | 20 | 3082758 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 7 | 30791273 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | X | 153905841 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 26864152 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 12 | 49955550 | missense variant | G/A | snv | 2.2E-05 | 6.3E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 |