| 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 | 0.160 | 1 | 2228870 | missense variant | C/A;G | snv | 0.800 | 1.000 | 4 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 2228869 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 2229115 | missense variant | G/C | snv | 0.800 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 2229402 | inframe deletion | TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/- | delins | 0.700 | 1.000 | 2 | 2002 | 2003 | |||||
|
1 | 1.000 | 0.160 | 10 | 68989100 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 68989082 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2228834 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2229113 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2228860 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2228867 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2229046 | inframe deletion | GACCGCTCC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2229046 | inframe deletion | TCCGACCGCTCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 10 | 69005119 | stop gained | C/A | snv | 3.2E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 10 | 69005124 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 2229305 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2229118 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 1 | 2228828 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |