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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 9 | 69065013 | missense variant | A/G;T | snv | 4.0E-06 | 0.810 | 1.000 | 7 | 1997 | 2009 | ||||
|
2 | 0.925 | 0.120 | 9 | 69053193 | stop gained | T/C;G | snv | 1.2E-05 | 0.800 | 1.000 | 6 | 1997 | 2009 | ||||
|
6 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 0.800 | 1.000 | 6 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.120 | 9 | 69064991 | missense variant | C/G | snv | 0.720 | 1.000 | 2 | 2004 | 2014 | |||||
|
2 | 0.925 | 0.120 | 9 | 69072622 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.120 | 9 | 69065016 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 9 | 69072673 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 9 | 69072722 | missense variant | T/G | snv | 0.700 | 1.000 | 6 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.120 | 9 | 69035785 | start lost | G/A;T | snv | 9.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 9 | 69064936 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 69035936 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 69072646 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 69053247 | protein altering variant | ATGTCT/TACACCTTGAGGACA | delins | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
7 | 0.807 | 0.200 | 9 | 69072623 | missense variant | G/A;C | snv | 3.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 9 | 69072686 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 |