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 | 8 | 74382740 | intron variant | T/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 14 | 79473182 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 14 | 79470621 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 16 | 53771053 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 16 | 53771295 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53781249 | intron variant | T/A;G | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 16 | 53785965 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 16 | 53811575 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53766475 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 18 | 60196859 | non coding transcript exon variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 18 | 60194728 | upstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 14 | 79473650 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
21 | 0.716 | 0.560 | 16 | 53779455 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 16 | 53794154 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53770428 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 |