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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.160 | 3 | 129528783 | missense variant | C/T | snv | 7.0E-06 | 0.750 | 1.000 | 6 | 2014 | 2019 | ||||
|
10 | 0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv | 0.740 | 0.800 | 5 | 1990 | 2019 | |||||
|
3 | 0.882 | 0.080 | 3 | 129532261 | missense variant | G/A;C | snv | 8.0E-06 | 0.730 | 1.000 | 5 | 1991 | 2019 | ||||
|
7 | 0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv | 0.730 | 1.000 | 4 | 2006 | 2019 | |||||
|
3 | 0.882 | 0.080 | 3 | 129529049 | missense variant | G/A;T | snv | 1.6E-05 | 0.720 | 1.000 | 3 | 1999 | 2019 | ||||
|
4 | 0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 1993 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 129528999 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 3 | 129532636 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.080 | 3 | 129528777 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.080 | 3 | 129528786 | missense variant | G/A;C | snv | 8.0E-05; 8.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 129532253 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 3 | 129531005 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 129531023 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 3 | 129528891 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 1992 | 1992 | |||||
|
2 | 0.925 | 0.080 | 3 | 129531025 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 129528816 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 3 | 129532282 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 129528913 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 129533648 | frameshift variant | CCAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 129531034 | missense variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.100 | 0.950 | 20 | 1992 | 2019 | |||||
|
2 | 0.925 | 0.080 | 3 | 129530918 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2006 | ||||
|
1 | 1.000 | 0.080 | 3 | 129528857 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
1 | 1.000 | 0.080 | 3 | 129530918 | missense variant | GG/TT | mnv | 0.020 | 1.000 | 2 | 2004 | 2006 | |||||
|
2 | 0.925 | 0.080 | 3 | 129532581 | stop gained | G/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 |