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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
9 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 0.750 | 1.000 | 21 | 2004 | 2019 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.750 | 1.000 | 11 | 2004 | 2020 | |||||
|
6 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 0.740 | 1.000 | 21 | 1990 | 2019 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.740 | 1.000 | 11 | 2004 | 2018 | |||||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.740 | 1.000 | 10 | 2004 | 2018 | |||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181320 | protein altering variant | -/ACC | delins | 0.700 | 1.000 | 3 | 2005 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 1.000 | 0.080 | 7 | 55174794 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 55174737 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
3 | 1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181327 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2008 | 2014 | |||||
|
2 | 0.925 | 0.120 | 7 | 55174735 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55174762 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181325 | inframe insertion | -/CACGTG | delins | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.080 | 7 | 55191749 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 7 | 55174773 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55174792 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55174730 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181324 | protein altering variant | -/GCCACG | delins | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 55173986 | inframe deletion | AAC/- | del | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 7 | 55181287 | coding sequence variant | -/TCCAGGAAGCCT | delins | 0.700 | 1.000 | 1 | 2008 | 2008 |