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 | 1 | 77664558 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 4051437 | intron variant | T/C | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 45271766 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 45874460 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 15 | 84614163 | intron variant | T/-;TT;TTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 135424914 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 71067604 | intron variant | A/T | snv | 0.32 | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 71116514 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 124960438 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 124960947 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 7 | 32745115 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 65569348 | non coding transcript exon variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 145924600 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 37530643 | intron variant | G/A;T | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 149079267 | intron variant | G/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 35276059 | intron variant | C/T | snv | 1.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 35279126 | intron variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 7 | 55888743 | intron variant | -/GCATACATACGT;GCGT;GCGTACATACATACGT;GCGTACATACCT;GCGTACATACGT | delins | 2.0E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 90079272 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 23744998 | missense variant | T/C | snv | 1.8E-03 | 7.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 19 | 11966036 | intron variant | G/A | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 227610249 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 1 | 227562367 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 17 | 49312652 | intron variant | G/A;C | snv | 3.7E-04; 0.33 | 0.700 | 1.000 | 1 | 2010 | 2010 |