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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 171387110 | intergenic variant | G/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 118962811 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 118988874 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 51930640 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 218423955 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 221136075 | upstream gene variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 118954531 | intron variant | G/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 51931271 | intron variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 118310352 | regulatory region variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 10226118 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 1 | 184051811 | missense variant | G/A | snv | 0.33 | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1 | 119031964 | 3 prime UTR variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.925 | 0.200 | 1 | 72346757 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1 | 244369912 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 219586391 | regulatory region variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 210504207 | intron variant | A/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 51938469 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 172383850 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 59655756 | intron variant | A/G | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1 | 118321979 | intergenic variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 |