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 | 0.925 | 0.120 | 19 | 18868625 | missense variant | A/G | snv | 5.1E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
1 | 5 | 173233212 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.120 | 12 | 119876131 | frameshift variant | AAAGGATTCC/- | delins | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 13 | 2001 | 2019 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.040 | 1.000 | 4 | 2006 | 2017 | |||
|
3 | 0.925 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins | 0.700 | 1.000 | 4 | 1997 | 2005 | |||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 5 | 173233142 | frameshift variant | CCG/AT | delins | 0.700 | 1.000 | 2 | 1998 | 1999 | |||||||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.925 | 0.120 | 12 | 114385522 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.080 | 9 | 37784894 | stop gained | G/A;C | snv | 8.6E-06; 3.1E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 6 | 42960279 | upstream gene variant | C/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 40807221 | intron variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 141204588 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 15 | 79885941 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 14 | 27023434 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 14 | 23413792 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |