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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.710 | 1.000 | 9 | 1993 | 2016 | |||||
|
40 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.710 | 1.000 | 6 | 2000 | 2019 | |||||
|
5 | 0.882 | 0.160 | 17 | 47946670 | missense variant | G/A;T | snv | 4.0E-05 | 0.710 | 1.000 | 0 | 2014 | 2014 | ||||
|
21 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 1.000 | 44 | 2001 | 2018 | |||
|
6 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
7 | 0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 | 0.700 | 1.000 | 9 | 2006 | 2015 | ||||
|
4 | 0.882 | 0.160 | 20 | 63350560 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1999 | 2013 | |||||
|
2 | 1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 9 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.040 | 5 | 126552059 | missense variant | C/G | snv | 3.6E-04 | 2.4E-04 | 0.700 | 1.000 | 8 | 2006 | 2017 | |||
|
7 | 0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 1.000 | 7 | 2003 | 2013 | |||
|
5 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.700 | 1.000 | 6 | 2007 | 2019 | |||
|
3 | 0.925 | 0.040 | 20 | 63415086 | stop gained | G/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 1984 | 2015 | ||||
|
1 | 20 | 63444765 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||||
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
6 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 0.700 | 1.000 | 4 | 2012 | 2016 | |||||
|
4 | 0.851 | 0.120 | 15 | 89320857 | missense variant | G/A | snv | 6.8E-04 | 3.4E-04 | 0.700 | 1.000 | 4 | 2007 | 2013 | |||
|
2 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
6 | 0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 1.000 | 3 | 2011 | 2015 | |||
|
4 | 0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 3 | 1999 | 2003 | |||||
|
2 | 1.000 | 20 | 63406659 | frameshift variant | -/GCCCA | delins | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||||
|
1 | 9 | 135768856 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||||
|
2 | 1.000 | 0.120 | 4 | 127921639 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 2009 | 2012 | |||
|
10 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 0.700 | 1.000 | 3 | 2012 | 2014 | |||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
3 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2013 | 2015 |