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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.730 | 1.000 | 3 | 2010 | 2016 | |||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 111908949 | frameshift variant | A/- | del | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 11 | 111911665 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 219421511 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2013 | 2017 | |||||
|
6 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.160 | 2 | 219425720 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 219420154 | missense variant | C/T | snv | 9.2E-03 | 1.0E-02 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 2 | 219421385 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 219418977 | inframe deletion | CGCGCGTCGACGTCGAGCGCG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 219418508 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.925 | 0.080 | 7 | 157367408 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 136209950 | missense variant | C/G;T | snv | 5.4E-06; 5.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 7 | 128858475 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 7 | 128854900 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | 10 | 86687218 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 10 | 86692544 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 5 | 137870830 | missense variant | C/G;T | snv | 3.6E-05 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 137870667 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 5 | 137870821 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 94587000 | missense variant | C/A;T | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
4 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 0.700 | 1.000 | 1 | 2018 | 2018 |