| 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 | 0.080 | 8 | 109097622 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 2 | 40369384 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 109103447 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1 | 61914626 | missense variant | G/A;C | snv | 0.57; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 132321978 | intron variant | C/A;T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 58705326 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 3041036 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 68552021 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 22268202 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 7 | 121145010 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 128810270 | intergenic variant | T/C | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 102796618 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 75115159 | intron variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 22551319 | downstream gene variant | C/T | snv | 0.95 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 10606778 | intron variant | C/A | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 83519589 | missense variant | G/A | snv | 0.15 | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 2 | 226257202 | regulatory region variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 17 | 18044396 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 22120823 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 60165624 | downstream gene variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 15 | 83918855 | intron variant | C/T | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 24873319 | intron variant | CAGAACAGTATGCACCCA/- | delins | 2.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 129546395 | intron variant | C/T | snv | 6.7E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 9192362 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |