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 | 12 | 132869741 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724733 | inframe insertion | -/TCCGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724731 | inframe insertion | -/TACGTGATGGCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 39724738 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 25245346 | synonymous variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 55174769 | protein altering variant | CAAGGAATTAAGAGAAGC/AAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 55174777 | inframe deletion | TAAGAGAAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 55181319 | inframe insertion | -/GGGTTG | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 179210293 | inframe deletion | AGATTTGCTGAACCC/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.320 | 3 | 179234230 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 25227234 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 9 | 21971063 | missense variant | C/A;G;T | snv | 4.3E-06; 8.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 9 | 21970958 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
12 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.080 | 21 | 36074727 | intron variant | T/C | snv | 0.63 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
25 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
10 | 0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 |