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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.100 | 1.000 | 18 | 2010 | 2015 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.100 | 1.000 | 15 | 2009 | 2018 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.100 | 1.000 | 14 | 2001 | 2014 | ||||||||
|
0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 |
|
0.100 | 1.000 | 13 | 2009 | 2018 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.100 | 1.000 | 10 | 2014 | 2018 | |||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.100 | 1.000 | 10 | 2003 | 2015 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.090 | 1.000 | 9 | 2005 | 2016 | ||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.090 | 1.000 | 9 | 2009 | 2018 | |||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.080 | 1.000 | 8 | 2006 | 2015 | |||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.070 | 1.000 | 7 | 2011 | 2019 | |||||||||
|
0.851 | 0.120 | 19 | 45387615 | intron variant | T/C | snv | 0.27 |
|
0.070 | 1.000 | 7 | 2012 | 2019 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.070 | 1.000 | 7 | 2005 | 2019 | |||||||
|
0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.060 | 1.000 | 6 | 2005 | 2019 | |||||||
|
0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 |
|
0.060 | 1.000 | 6 | 2012 | 2019 | ||||||||
|
0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 |
|
0.060 | 1.000 | 6 | 2006 | 2019 | |||||||
|
0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 |
|
0.060 | 1.000 | 6 | 2009 | 2017 | ||||||||
|
0.851 | 0.080 | 19 | 45406676 | 5 prime UTR variant | G/A;C;T | snv | 0.22; 6.7E-06 |
|
0.060 | 1.000 | 6 | 2012 | 2018 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2006 | 2018 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.050 | 1.000 | 5 | 2006 | 2018 | |||||||||
|
0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 |
|
0.050 | 1.000 | 5 | 2006 | 2015 | ||||||||
|
0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 |
|
0.050 | 1.000 | 5 | 2010 | 2014 | ||||||||
|
0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 2006 | 2018 | |||||||||
|
0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 |
|
0.050 | 1.000 | 5 | 2011 | 2015 | ||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.040 | 1.000 | 4 | 2012 | 2019 |