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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
7 | 101138800 | 3 prime UTR variant | T/C | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 101129564 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 101129564 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 101126425 | upstream gene variant | -/G | delins |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.040 | 7 | 101132065 | splice donor variant | -/TA | delins | 4.0E-06 |
|
0.700 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
1.000 | 0.040 | 7 | 101133793 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 7 | 101130504 | frameshift variant | -/C | delins |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 7 | 101133650 | intron variant | G/A;T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 7 | 101128442 | missense variant | G/A | snv | 2.9E-02 | 3.3E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 7 | 101138164 | 3 prime UTR variant | T/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 7 | 101137084 | splice donor variant | G/- | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 101137405 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 101132023 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 7 | 101133986 | intron variant | T/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.160 | 7 | 101128439 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 7 | 101137079 | missense variant | C/A;T | snv | 4.0E-06; 3.6E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 7 | 101137079 | missense variant | C/A;T | snv | 4.0E-06; 3.6E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 7 | 101137079 | missense variant | C/A;T | snv | 4.0E-06; 3.6E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 |