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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 178590160 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 241143002 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178630352 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178779043 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178572742 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 178593660 | missense variant | C/A;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178563634 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 178800635 | missense variant | C/G;T | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178572808 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 221482474 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 69965076 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 3 | 12608919 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 3 | 9760752 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 54290418 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 6 | 166469882 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 43283303 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 91 | 2004 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 91 | 2004 | 2020 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.090 | 1.000 | 9 | 2012 | 2018 |