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 | 8 | 40782400 | intron variant | A/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 3 | 141375367 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 34857885 | synonymous variant | T/C | snv | 0.13 | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 6 | 34801988 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 8647890 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 6 | 40380914 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 19 | 50637155 | intron variant | C/T | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 76225103 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 72775621 | intron variant | C/G;T | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 47413435 | synonymous variant | G/A;T | snv | 0.31; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 0.120 | 16 | 28871920 | missense variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 7 | 84069940 | intron variant | T/C | snv | 5.6E-04 | 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 | ||||
|
2 | 3 | 159541502 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 16 | 28322090 | 3 prime UTR variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 127134676 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 32180254 | synonymous variant | A/G | snv | 0.13 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 22 | 45413817 | 5 prime UTR variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 19 | 45698914 | intron variant | C/T | snv | 0.17 | 0.16 | 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 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 |