Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 1 | 214657274 | stop gained | A/G;T | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
4 | 40354405 | missense variant | A/G | snv | 0.78 | 0.76 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 14 | 36520098 | missense variant | C/G;T | snv | 1.3E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
22 | 20087052 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
22 | 20111059 | 3 prime UTR variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |