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 | 0.925 | 0.160 | 11 | 89623460 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 5306434 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 18 | 43695432 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 125733372 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 0.925 | 0.120 | 10 | 20304158 | intergenic variant | G/T | snv | 0.15 | 0.810 | 1.000 | 1 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 3 | 157136953 | downstream gene variant | G/A | snv | 7.9E-02 | 0.810 | 1.000 | 1 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.120 | 5 | 166962488 | regulatory region variant | A/G | snv | 5.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 3 | 168172398 | intergenic variant | T/-;TT | delins | 5.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 9368285 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 165065309 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 165064562 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 0.925 | 0.120 | 10 | 57429418 | intergenic variant | T/C | snv | 0.55 | 0.810 | 1.000 | 1 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 4 | 161329780 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 247647989 | intron variant | G/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.882 | 0.160 | 17 | 75422781 | intergenic variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 0.882 | 0.160 | 10 | 48491914 | intron variant | C/T | snv | 0.38 | 0.810 | 1.000 | 1 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.120 | 13 | 96299179 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 5 | 94221997 | intron variant | A/G | snv | 8.7E-02 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.882 | 0.160 | 6 | 84468550 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 1 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 7085094 | intron variant | A/G | snv | 8.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 243998680 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 1 | 244013122 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 244006892 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 13 | 75609137 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |