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 | 0.925 | 0.080 | 9 | 133454548 | missense variant | C/A;T | snv | 8.3E-04 | 0.810 | 1.000 | 4 | 2001 | 2018 | ||||
|
1 | 0.925 | 0.080 | 9 | 133440344 | missense variant | C/T | snv | 1.2E-05 | 0.810 | 1.000 | 1 | 2001 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 133426246 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.810 | 1.000 | 0 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133442504 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.810 | 1.000 | 0 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133424410 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 3 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133442447 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 2 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 133424434 | missense variant | C/G | snv | 0.800 | 1.000 | 0 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 133448718 | missense variant | T/G | snv | 7.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 133424452 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 0 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133433478 | missense variant | G/A | snv | 0.800 | 1.000 | 0 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 133454440 | missense variant | T/G | snv | 3.2E-05 | 1.2E-04 | 0.800 | 1.000 | 0 | 2001 | 2011 | |||
|
1 | 1.000 | 0.080 | 9 | 133437895 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 133456138 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 133428750 | missense variant | G/C;T | snv | 0.800 | 1.000 | 0 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 133428696 | missense variant | C/T | snv | 0.800 | 1.000 | 0 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.080 | 9 | 133426236 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2011 | |||
|
1 | 0.925 | 0.080 | 9 | 133426218 | missense variant | G/C | snv | 4.7E-04 | 4.3E-04 | 0.710 | 1.000 | 7 | 2009 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 133436890 | missense variant | C/T | snv | 2.3E-03 | 2.1E-03 | 0.700 | 1.000 | 3 | 2003 | 2007 | |||
|
1 | 1.000 | 0.080 | 9 | 133424479 | splice donor variant | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2004 | 2008 | ||||
|
1 | 1.000 | 0.080 | 9 | 133455576 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.080 | 9 | 133436943 | missense variant | C/T | snv | 5.8E-03 | 2.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 133436865 | stop gained | C/G;T | snv | 4.9E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 133438245 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.160 | 9 | 133442718 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 133458996 | inframe deletion | ACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAGTCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGCCTGCGGGGCCAGTACTGGACC/- | delins | 0.700 | 0 |