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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.979 | 477 | 2002 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.800 | 0.981 | 464 | 2002 | 2020 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.800 | 1.000 | 54 | 2002 | 2020 | |||||
|
8 | 0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2007 | 2020 | ||||
|
1 | 1.000 | 0.040 | 19 | 6836546 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 32 | 1989 | 2019 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.800 | 1.000 | 30 | 1989 | 2019 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 0.941 | 17 | 2011 | 2019 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.800 | 1.000 | 16 | 2005 | 2019 | |||||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.800 | 0.938 | 16 | 2001 | 2019 | ||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.100 | 1.000 | 13 | 2011 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.833 | 12 | 2006 | 2019 | ||||
|
16 | 0.732 | 0.240 | 16 | 89919736 | missense variant | C/T | snv | 4.7E-02 | 4.8E-02 | 0.090 | 0.889 | 9 | 2001 | 2019 | |||
|
9 | 0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv | 0.070 | 1.000 | 7 | 2013 | 2019 | |||||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.070 | 0.714 | 7 | 2001 | 2019 | |||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.720 | 1.000 | 6 | 1986 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 21 | 41374154 | intron variant | C/T | snv | 0.48 | 0.820 | 1.000 | 4 | 2011 | 2019 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
7 | 0.807 | 0.160 | 5 | 1313127 | upstream gene variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 0.925 | 0.120 | 9 | 21971123 | missense variant | G/A;T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 |