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 | 11 | 26670117 | 3 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 97891932 | intron variant | T/C | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 82961263 | intron variant | G/A | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 131570680 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 80816613 | intergenic variant | G/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 2 | 47012873 | intron variant | G/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 12 | 108373556 | regulatory region variant | C/A | snv | 7.6E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 9 | 33283584 | downstream gene variant | G/T | snv | 6.3E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 2 | 122533446 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.080 | 6 | 100173055 | upstream gene variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 2 | 48974189 | intron variant | A/G | snv | 0.23 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 116927159 | intron variant | C/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 6 | 100181202 | downstream gene variant | T/C | snv | 0.23 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 65147139 | intergenic variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 4 | 119565333 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.200 | 3 | 105292046 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 16 | 85910833 | intron variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 9 | 22200957 | downstream gene variant | G/A | snv | 7.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.280 | 6 | 417727 | intergenic variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.160 | 9 | 22055049 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |