| 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 | 19 | 50406132 | intron variant | T/A;G | snv | 0.73 | 0.79 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 22 | 23793671 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 11 | 118609400 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 14 | 32780875 | intron variant | G/A | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 246320481 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 83199436 | intergenic variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 100000723 | non coding transcript exon variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 132799954 | intron variant | T/C | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 238358337 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 10 | 103901557 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 10 | 112699938 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 243688645 | intron variant | G/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 244811284 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 60202030 | intergenic variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 75869771 | intron variant | T/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 74782438 | intergenic variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 4364085 | intergenic variant | G/A;T | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 54584133 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 20 | 63691653 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 1 | 204539019 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 96014174 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 |