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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 8 | 6436147 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 68211844 | frameshift variant | -/G | delins | 2.4E-05; 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 12 | 55707550 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||||
|
1 | 6 | 85533736 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 24596030 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 87934803 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 18 | 62140447 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 14 | 77306344 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 25764244 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | X | 23379781 | missense variant | A/C | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.080 | 19 | 15188277 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 1 | 40092486 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 6 | 87518718 | missense variant | A/C;G | snv | 6.0E-05 | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.120 | 5 | 168486503 | missense variant | A/C;G;T | snv | 4.2E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1 | 113900063 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 20 | 42885815 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 16 | 1220830 | missense variant | A/G | snv | 6.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 1 | 1353913 | missense variant | A/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||||
|
1 | 4 | 112647384 | stop gained | A/T | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 6 | 85572333 | stop gained | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 17 | 82032785 | missense variant | A/T | snv | 0.700 | 0 | ||||||||||
|
1 | 12 | 109768213 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 14 | 87950752 | intron variant | AA/-;A;AAA | delins | 0.96 | 0.700 | 0 | |||||||||
|
1 | 2 | 144429823 | frameshift variant | ACCCTCC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.120 | 1 | 197143564 | frameshift variant | C/- | del | 0.700 | 0 |