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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 2 | 46133768 | intron variant | G/C | snv | 0.36 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 4 | 76492991 | intron variant | T/A;C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 2 | 46126027 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 100645788 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.925 | 0.120 | 15 | 76001630 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 15 | 76006403 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 70923707 | intron variant | G/A | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 10297748 | intron variant | G/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 46066687 | intron variant | C/T | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 6 | 2050557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 17 | 59748211 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 40760574 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 2 | 121238062 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 7 | 134684558 | intron variant | A/G | snv | 1.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 5 | 40494576 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 8 | 127916000 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 64236875 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |