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 | 15 | 70641233 | downstream gene variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 15 | 70644099 | TF binding site variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 12 | 95877650 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 15 | 71317183 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 6 | 39816589 | intron variant | C/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 16 | 78154841 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 17 | 36032936 | regulatory region variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 10 | 76560835 | non coding transcript exon variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 17 | 36031260 | regulatory region variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 10 | 76560588 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
7 | 0.925 | 0.040 | 4 | 88962828 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 1.000 | 0.040 | 16 | 75356418 | intron variant | T/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 1.000 | 0.040 | 4 | 88963935 | intron variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 6 | 142496270 | intergenic variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 6 | 142424746 | intron variant | T/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 148470196 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 148468225 | intron variant | G/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 6 | 142392705 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 6 | 142382740 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
11 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 4 | 88949813 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 10 | 76571560 | intergenic variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
13 | 0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 6 | 142339977 | intron variant | T/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
9 | 1.000 | 0.040 | 4 | 88947927 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2010 | 2010 |