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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 10 | 102837167 | synonymous variant | C/A;T | snv | 0.40; 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 6 | 108656460 | 5 prime UTR variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1 | 109540264 | intron variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 112521309 | regulatory region variant | G/A | snv | 4.9E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 123396542 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 3 | 12350773 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 12 | 123924955 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 124021568 | intron variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 127134676 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 128238459 | intron variant | T/C | snv | 5.9E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 130764699 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 141375367 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 146194776 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 3 | 159541502 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 160298561 | intergenic variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177883445 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1 | 177909798 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 180507117 | regulatory region variant | A/G | snv | 3.0E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 16 | 19798423 | intron variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 |