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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 4 | 154616169 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 4 | 186242705 | intron variant | G/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 4 | 186283783 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 186741121 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 186279396 | intron variant | A/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 169518583 | intron variant | G/A;T | snv | 2.6E-04; 6.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 10 | 19946534 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 12 | 7059466 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
8 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 0.800 | 1.000 | 2 | 2013 | 2018 | |||
|
3 | 3 | 186677647 | missense variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 177429924 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186721384 | non coding transcript exon variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186721146 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186732280 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 3 | 186676249 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 5 | 177403626 | non coding transcript exon variant | G/A;C;T | snv | 0.52; 6.2E-04; 1.8E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186743392 | 3 prime UTR variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 3 | 186677324 | missense variant | A/G;T | snv | 0.20; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 5 | 177433292 | intron variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 4 | 186251126 | non coding transcript exon variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 3 | 186729258 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186740533 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 |