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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 10 | 121515192 | synonymous variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 10 | 121551382 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 121520109 | inframe deletion | ACCACT/- | del | 0.700 | 0 | ||||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 7 | 19116927 | missense variant | C/G | snv | 0.700 | 1.000 | 10 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116905 | inframe insertion | -/GGCAGCGTGGGGATGATCTTC | delins | 0.700 | 1.000 | 7 | 1997 | 2010 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116946 | stop gained | C/A | snv | 0.700 | 1.000 | 5 | 1997 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116976 | missense variant | G/C | snv | 0.700 | 1.000 | 4 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 19116966 | missense variant | T/G | snv | 0.800 | 1.000 | 3 | 1997 | 2001 | |||||
|
1 | 1.000 | 0.080 | 7 | 19116856 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 1997 | 2001 | |||||
|
1 | 1.000 | 0.080 | 7 | 19116930 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 1997 | 2001 | |||||
|
2 | 0.925 | 0.080 | 7 | 19117180 | frameshift variant | CGCGCTGCGCC/- | delins | 0.700 | 1.000 | 2 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.080 | 7 | 19117013 | stop gained | G/C;T | snv | 0.710 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.080 | 7 | 19117240 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116913 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 7 | 19116781 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 |