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 | 11 | 108247117 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 108247110 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 108326070 | missense variant | G/A;T | snv | 1.0E-04 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.360 | 11 | 108365360 | missense variant | G/A;C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 7675091 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 1 | 177002472 | intron variant | T/C | snv | 0.58 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2007 | 2019 | |||||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2008 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2007 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2007 | 2019 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.080 | 1.000 | 8 | 2013 | 2019 | |||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.840 | 1.000 | 7 | 2008 | 2018 | ||||
|
13 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 0.840 | 1.000 | 7 | 2008 | 2014 | |||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.830 | 1.000 | 6 | 2008 | 2014 | |||||
|
4 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 0.830 | 1.000 | 6 | 2008 | 2014 | ||||
|
7 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
7 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2015 | 2018 | |||||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.830 | 1.000 | 5 | 2008 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2007 | 2015 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.830 | 1.000 | 3 | 2008 | 2010 |