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 | 0.040 | 7 | 140753351 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.280 | 7 | 140753350 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 7 | 140753321 | missense variant | CT/AA | mnv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 7 | 140753321 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 140781597 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.240 | 7 | 140753352 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.160 | 7 | 140924673 | missense variant | C/T | snv | 9.3E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 140778454 | intron variant | G/T | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2009 | 2014 | ||||
|
7 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2014 | 2018 | |||||
|
4 | 0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
2 | 0.925 | 0.200 | 7 | 140781618 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
3 | 1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2014 | ||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2002 | 2003 | |||||
|
2 | 0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv | 0.700 | 1.000 | 3 | 2002 | 2010 |