| 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 | 1.000 | 0.080 | 1 | 15456025 | upstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15456801 | splice region variant | C/G | snv | 2.8E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 60008735 | non coding transcript exon variant | G/A | snv | 6.9E-03 | 6.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 15791573 | upstream gene variant | A/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15423721 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15522508 | intron variant | G/C | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15443607 | intron variant | G/A;C | snv | 8.9E-02; 1.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15436844 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15429180 | 3 prime UTR variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15455849 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 15618437 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 5 | 147808460 | intergenic variant | T/G | snv | 8.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 7 | 142725721 | downstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 7 | 142620329 | downstream gene variant | G/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142768604 | intron variant | A/C | snv | 5.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 142775173 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142769934 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142770747 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142776454 | downstream gene variant | G/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 142627230 | missense variant | C/A | snv | 0.13; 3.2E-05 | 9.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |