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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
8 | 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 | ||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.710 | 1.000 | 9 | 1993 | 2016 | |||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.710 | 1.000 | 7 | 2000 | 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 | |||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2006 | 2014 | ||||
|
12 | 0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2008 | 2019 | |||||
|
9 | 0.790 | 0.080 | 2 | 165992332 | missense variant | C/A;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
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 | |||||
|
2 | 1.000 | 0.120 | 11 | 6616375 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2013 | ||||
|
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 | |||||||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
4 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2013 | 2015 | |||||
|
3 | 0.925 | 0.040 | 22 | 31815209 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||
|
8 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
3 | 0.925 | 20 | 63413526 | missense variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||||
|
4 | 1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 |