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 | 16 | 31185145 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 16 | 31184986 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 31190961 | splice acceptor variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 31191427 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 16 | 31191052 | stop gained | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 16 | 31185031 | missense variant | G/A | snv | 6.5E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 31185103 | missense variant | G/T | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.080 | 16 | 31191410 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2009 | 2016 | |||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||
|
1 | 1.000 | 16 | 31191421 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2009 | 2016 | ||||||
|
1 | 1.000 | 16 | 31191089 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||||
|
3 | 0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 | 0.800 | 1.000 | 5 | 2009 | 2016 | ||||
|
1 | 1.000 | 16 | 31185115 | missense variant | C/T | snv | 1.3E-05 | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.080 | 16 | 31191429 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||
|
5 | 0.827 | 0.080 | 16 | 31191431 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.080 | 10 | 60043304 | non coding transcript exon variant | T/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 4 | 108706869 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 14 | 101008533 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 12 | 130971904 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 1 | 38528443 | intergenic variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 5 | 11084600 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 8 | 2180583 | regulatory region variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 3 | 178681763 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 |