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 | 3 | 56740187 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 19 | 16102887 | 3 prime UTR variant | -/A | delins | 4.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 273178 | intron variant | -/A | delins | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 158833186 | upstream gene variant | -/A;AA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 7989603 | intergenic variant | -/A;AA;AAAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 20 | 59023277 | intron variant | -/AA | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 14381256 | 5 prime UTR variant | -/AGTG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
13 | 17 | 50184820 | 3 prime UTR variant | -/CTTG | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 13 | 32605907 | intron variant | -/TC | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 69849610 | intron variant | A/- | del | 0.53 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 5 | 141322493 | intron variant | A/- | delins | 6.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 329344 | intron variant | A/- | del | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 101878992 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10 | 112391369 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 12 | 54293448 | intron variant | A/C | snv | 0.75 | 0.800 | 1.000 | 2 | 2009 | 2014 | ||||||
|
3 | 10 | 63373396 | intron variant | A/C | snv | 0.23 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 18 | 69849610 | intron variant | A/C | snv | 0.18 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 5 | 132316836 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 88950086 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 49277876 | upstream gene variant | A/C | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 55198171 | intron variant | A/C | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 108856580 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 18 | 44482415 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 56831748 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 3 | 2009 | 2012 |