| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 17 | 43094550 | frameshift variant | GT/- | delins |
|
0.020 | 1.000 | 2 | 2010 | 2015 | |||||||||
|
0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.851 | 0.160 | 17 | 43047676 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 17 | 43076573 | stop gained | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 |
|
0.710 | 1.000 | 1 | 1994 | 2017 | |||||||
|
0.851 | 0.200 | 17 | 43099786 | missense variant | T/C | snv | 2.6E-04 | 2.9E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 17 | 43045759 | stop gained | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43076600 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 17 | 43104260 | stop gained | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 17 | 43115745 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 17 | 43082503 | stop gained | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.200 | 17 | 43045760 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.200 | 17 | 43106497 | frameshift variant | C/-;CC | delins |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.080 | 17 | 43091982 | frameshift variant | TT/- | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.200 | 17 | 43051086 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 17 | 43091983 | missense variant | T/A;C | snv | 0.35 | 0.31 |
|
0.020 | 1.000 | 2 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 17 | 43082496 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2010 | |||||||
|
0.882 | 0.080 | 17 | 43063940 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2003 | 2006 | |||||||||
|
0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 17 | 43082287 | intron variant | C/T | snv | 6.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |