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 | 7 | 100020983 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 103883376 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 103894406 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.160 | 10 | 103913084 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 1060934 | TF binding site variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061718 | intergenic variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1061781 | intergenic variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1062867 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1062990 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1063767 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1067011 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1068900 | intergenic variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1073712 | upstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1085368 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 11 | 1090036 | non coding transcript exon variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 11 | 1100037 | intron variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 11 | 1102586 | synonymous variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1107741 | non coding transcript exon variant | T/C | snv | 0.58 | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 1112068 | downstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 13 | 112882313 | 3 prime UTR variant | A/G | snv | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 119941633 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.040 | 11 | 1219775 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2013 | 2019 | |||||
|
4 | 0.882 | 0.120 | 11 | 1221460 | upstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 1228142 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 |