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 | 19 | 14381256 | 5 prime UTR variant | -/AGTG | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 35680792 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 73236889 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 18 | 9617722 | intron variant | AA/-;A;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 64307290 | downstream gene variant | TTTT/-;T;TT;TTT;TTTTT | delins | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 56740187 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 45796388 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 44644040 | 5 prime UTR variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 11853098 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 14 | 102630269 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 6923070 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 29348208 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 45212934 | 3 prime UTR variant | G/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 31347735 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 58452163 | 5 prime UTR variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 1620279 | upstream gene variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 47252031 | upstream gene variant | A/G | snv | 5.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 94534108 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 80586889 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 37412510 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 11794093 | TF binding site variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 35632228 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 190863318 | regulatory region variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 124618265 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 5 | 132316836 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 |