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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 17 | 39725161 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 17 | 39509731 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 74842272 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 6046097 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 88135386 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 6 | 149683082 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 9 | 22008805 | missense variant | G/A | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 64055926 | missense variant | A/C | snv | 1.0E-02; 6.8E-06 | 1.0E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 4 | 65490529 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 26027116 | missense variant | G/A | snv | 1.9E-04 | 1.6E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 17 | 39724728 | inframe insertion | -/ATACGTGATGGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 39724745 | inframe insertion | -/TGTGGGCTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 108333954 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 8 | 47943872 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 151077331 | missense variant | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 8 | 86064182 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 11 | 108267246 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 11 | 108345849 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 4 | 65404419 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 189639813 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 1 | 2014 | 2014 |