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 | 0.120 | 19 | 13261495 | missense variant | A/C | snv | 0.810 | 1.000 | 16 | 1996 | 2014 | |||||
|
2 | 0.925 | 0.120 | 19 | 13231847 | missense variant | C/T | snv | 0.810 | 1.000 | 15 | 1996 | 2011 | |||||
|
14 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | 19 | 13359707 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1996 | 2011 | |||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13365344 | missense variant | G/A | snv | 0.800 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13257474 | missense variant | A/G | snv | 0.800 | 1.000 | 15 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.160 | 19 | 13359724 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13235649 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 15 | 1996 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 13234966 | missense variant | T/A | snv | 0.710 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13365358 | missense variant | T/C | snv | 0.710 | 1.000 | 15 | 1996 | 2011 | |||||
|
3 | 0.882 | 0.160 | 19 | 13359680 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 19 | 13365335 | missense variant | A/G | snv | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13257499 | missense variant | C/G;T | snv | 4.3E-06 | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 13257466 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 15 | 1996 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 13209438 | missense variant | G/A | snv | 4.5E-05 | 6.3E-05 | 0.700 | 1.000 | 15 | 1996 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 13334411 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13317168 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 15 | 1996 | 2011 | |||
|
1 | 1.000 | 0.120 | 19 | 13299243 | missense variant | A/G | snv | 4.1E-06 | 0.700 | 1.000 | 15 | 1996 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 13228722 | missense variant | A/G | snv | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13308123 | missense variant | C/A;T | snv | 0.700 | 1.000 | 15 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 19 | 13298946 | missense variant | G/A;C | snv | 5.6E-05; 1.1E-03 | 0.700 | 1.000 | 14 | 1996 | 2011 | ||||
|
2 | 0.925 | 0.120 | 19 | 13245181 | splice donor variant | C/A | snv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||
|
5 | 0.851 | 0.160 | 19 | 13235693 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2006 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 13262790 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2012 |