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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.890 | 1.000 | 40 | 1993 | 2014 | |||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.890 | 0.969 | 32 | 1993 | 2012 | |||||
|
2 | 0.925 | 0.080 | 21 | 31663842 | missense variant | G/A | snv | 0.800 | 1.000 | 32 | 1993 | 2017 | |||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.870 | 1.000 | 30 | 1993 | 2013 | |||||
|
3 | 0.882 | 0.080 | 21 | 31667337 | missense variant | C/G;T | snv | 0.800 | 1.000 | 28 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31668547 | missense variant | T/C | snv | 0.800 | 1.000 | 28 | 1993 | 2017 | |||||
|
5 | 0.851 | 0.080 | 21 | 31667298 | missense variant | G/A;C;T | snv | 0.820 | 1.000 | 25 | 1993 | 2017 | |||||
|
4 | 0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv | 0.810 | 1.000 | 24 | 1993 | 2012 | |||||
|
2 | 0.925 | 0.080 | 21 | 31659789 | missense variant | G/A;T | snv | 0.810 | 1.000 | 24 | 1993 | 2012 | |||||
|
12 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 0.810 | 1.000 | 24 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31668549 | missense variant | G/A | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31668568 | missense variant | T/C | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31659833 | missense variant | G/A | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31659818 | missense variant | G/A;T | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
6 | 0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31663854 | missense variant | T/C;G | snv | 0.800 | 1.000 | 23 | 1993 | 2012 | |||||
|
4 | 0.882 | 0.080 | 21 | 31667331 | missense variant | A/T | snv | 0.720 | 1.000 | 22 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.080 | 21 | 31659837 | missense variant | A/G;T | snv | 0.700 | 1.000 | 20 | 1993 | 2009 | |||||
|
1 | 1.000 | 0.080 | 21 | 31667281 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1993 | 2009 | |||||
|
5 | 0.827 | 0.200 | 2 | 74378104 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.080 | 21 | 31667278 | missense variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.080 | 21 | 31668556 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | |||||
|
2 | 0.925 | 0.080 | 16 | 1792440 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 1997 | 2000 | |||||
|
2 | 0.925 | 0.080 | 16 | 1792441 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 1994 | 1996 | |||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2002 | 2009 |