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 | 1.000 | 0.080 | 1 | 2175293 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98964724 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 36348807 | missense variant | C/T | snv | 2.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 44228798 | missense variant | G/A | snv | 1.9E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 108227692 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 108330234 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 108329154 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 54731395 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 178609836 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 12125315 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 36355378 | missense variant | A/G | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 3077855 | missense variant | G/A | snv | 3.2E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 6 | 3083284 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 10 | 86917188 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 105923145 | missense variant | A/C | snv | 7.9E-05 | 1.9E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 24035448 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 131349687 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 16 | 23638116 | stop gained | A/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.320 | 11 | 108244873 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 3077805 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 3778199 | missense variant | C/G;T | snv | 1.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 45280710 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 47898527 | missense variant | C/T | snv | 0.700 | 0 |