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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
1 | 4 | 156613097 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 14389607 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 121425789 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | X | 55910389 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 14381492 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 22292652 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 102525876 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.040 | 1 | 205669336 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 12 | 14428515 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 0.882 | 0.200 | 12 | 14500933 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 34761870 | intergenic variant | G/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.040 | 10 | 120870067 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 8 | 23609471 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 121572176 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 4 | 145953075 | intergenic variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 117970471 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 14368442 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | X | 24041058 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 87724354 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 79821935 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 205663090 | inframe deletion | CGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGCGC/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 13 | 41321130 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 12 | 14395380 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14422525 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |