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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.080 | 3 | 10294607 | non coding transcript exon variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.040 | 1.000 | 4 | 2005 | 2014 | |||||||
|
0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 11 | 108281026 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 6 | 108682118 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.160 | 12 | 112083644 | intron variant | G/A | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2009 | 2012 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.050 | 0.400 | 5 | 2007 | 2015 | |||||||
|
0.925 | 0.040 | 2 | 127292492 | 3 prime UTR variant | C/T | snv | 5.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.020 | 1.000 | 2 | 2005 | 2018 | |||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |