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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 19116766 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 7 | 19116759 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 7 | 19116927 | missense variant | C/G | snv | 0.700 | 1.000 | 10 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116905 | inframe insertion | -/GGCAGCGTGGGGATGATCTTC | delins | 0.700 | 1.000 | 7 | 1997 | 2010 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116946 | stop gained | C/A | snv | 0.700 | 1.000 | 5 | 1997 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116976 | missense variant | G/C | snv | 0.700 | 1.000 | 4 | 1998 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 19117180 | frameshift variant | CGCGCTGCGCC/- | delins | 0.700 | 1.000 | 2 | 2003 | 2013 | |||||
|
2 | 0.925 | 0.080 | 19 | 42249220 | frameshift variant | CT/- | del | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116913 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 42249545 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 19116993 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 42249379 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 42249493 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 19116903 | stop gained | -/AGGGCAGCGTGGGGATGATCT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 19117021 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 19117211 | frameshift variant | CGTCCCCCGCGCTTGCCGCTCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 42250365 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 42254967 | splice donor variant | CCCCCACCTGTGTCCGCCGGGGTCTTCATGCTGGGGGGCCCGGGGCGAAGCGCCCCGATTCCGGGCCGCGGCTCCCG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 19 | 42249565 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 10 | 67875446 | downstream gene variant | T/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.320 | 10 | 67915401 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 10 | 67887218 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 10 | 67884201 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.280 | 10 | 67907144 | intron variant | A/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |