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 | 5 | 92818872 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 18 | 23506161 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 113643002 | intergenic variant | T/C | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 70019090 | intron variant | C/T | snv | 8.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 25677222 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 3 | 61247301 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 96478438 | intergenic variant | T/C | snv | 0.49 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 31412645 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 1.000 | 0.080 | 16 | 3963466 | 3 prime UTR variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.200 | 6 | 31605179 | intergenic variant | A/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 85394069 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 141334437 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 6 | 31306975 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 68340531 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 26197818 | intron variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 7 | 92614358 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 53530833 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 110276815 | intron variant | C/T | snv | 0.90 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 169152874 | intron variant | G/A | snv | 2.9E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 21691067 | intron variant | C/T | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 113256632 | non coding transcript exon variant | G/A | snv | 6.8E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1 | 177916627 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |