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 | 7 | 55143387 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 7 | 55154050 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 3 | 36996639 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 224557736 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 110919162 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 43780773 | missense variant | G/A;T | snv | 8.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 4 | 23828453 | missense variant | T/C;G | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 17 | 7673743 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
3 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 7 | 55143386 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 12 | 48970460 | missense variant | T/C | snv | 4.1E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
3 | 0.925 | 0.160 | 3 | 12599717 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.040 | 7 | 55154128 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 18 | 55631366 | missense variant | G/A;C | snv | 1.4E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
4 | 0.925 | 0.080 | 2 | 29222584 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.120 | 2 | 29220776 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.040 | 9 | 21974725 | missense variant | C/T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 13 | 32380096 | stop gained | T/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.882 | 0.120 | 5 | 68293310 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.120 | 5 | 68295269 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |