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 | 10 | 12263649 | TF binding site variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142523114 | downstream gene variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 15 | 70641392 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 6 | 142448249 | downstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 6 | 142476152 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142455892 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142455927 | intergenic variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142479621 | intergenic variant | T/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142458748 | intergenic variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 218686726 | regulatory region variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1.000 | 0.040 | 21 | 34279939 | intron variant | A/G;T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 5 | 157517467 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||||
|
2 | 5 | 157505976 | intron variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 5 | 157510035 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 5 | 157509758 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 157509356 | missense variant | T/C;G | snv | 0.38; 8.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 157493748 | intron variant | G/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 5 | 157505368 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 157512490 | intron variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142382532 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 142414679 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142389851 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 142370412 | missense variant | A/C | snv | 0.19 | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 6 | 142424746 | intron variant | -/G | ins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 142399217 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 |