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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.240 | 12 | 49031861 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.320 | 12 | 25225628 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.320 | 17 | 7676153 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
16 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.160 | X | 8533018 | missense variant | T/C | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.160 | 22 | 40409505 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.200 | 14 | 104780148 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
5 | 0.827 | 0.280 | 8 | 38419696 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.827 | 0.280 | 8 | 38418270 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.160 | 8 | 38419678 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 0.667 | 3 | 2003 | 2008 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2007 | 2008 | |||
|
1 | 1.000 | 0.160 | 2 | 201185809 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |