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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.800 | 1.000 | 12 | 1994 | 2009 | ||||
|
6 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 0.800 | 1.000 | 12 | 1994 | 2009 | ||||
|
8 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 0.800 | 1.000 | 12 | 1994 | 2009 | ||||
|
5 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 0.800 | 1.000 | 12 | 1994 | 2009 | |||||
|
5 | 0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 | 0.800 | 1.000 | 12 | 1994 | 2009 | ||||
|
1 | 1.000 | 9 | 21971094 | missense variant | C/T | snv | 4.3E-06 | 0.800 | 1.000 | 12 | 1994 | 2009 | |||||
|
4 | 0.882 | 0.080 | 9 | 21971093 | missense variant | C/G;T | snv | 0.800 | 1.000 | 12 | 1994 | 2009 | |||||
|
4 | 0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv | 0.800 | 1.000 | 12 | 1994 | 2009 | |||||
|
2 | 0.925 | 0.080 | 9 | 21970995 | missense variant | C/G;T | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 9 | 21971109 | missense variant | C/A;T | snv | 4.3E-06 | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
2 | 0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
2 | 1.000 | 9 | 21974679 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
1 | 1.000 | 9 | 21974724 | missense variant | C/A;G;T | snv | 4.1E-06; 1.2E-05 | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
4 | 0.882 | 0.200 | 9 | 21971100 | missense variant | G/A | snv | 8.6E-06 | 7.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2009 | |||
|
3 | 0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 | 0.700 | 1.000 | 12 | 1994 | 2009 | ||||
|
1 | 1.000 | 9 | 21971139 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 12 | 1994 | 2009 | ||||||
|
3 | 0.925 | 0.120 | 9 | 21971156 | missense variant | GC/AA | mnv | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
3 | 0.925 | 0.120 | 9 | 21974733 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1994 | 2009 | |||||
|
3 | 0.925 | 0.120 | 9 | 21971192 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 9 | 21971121 | stop gained | G/A;C | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 9 | 21974861 | 5 prime UTR variant | C/A;G;T | snv | 4.3E-05; 6.1E-05; 8.7E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 9 | 21971019 | missense variant | GC/AG | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 9 | 21971115 | frameshift variant | CGGGTCGGGTGAGAGTGGC/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 9 | 21974796 | start lost | GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC | delins | 1.5E-04 | 0.700 | 0 |