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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.974 | 39 | 1998 | 2020 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.895 | 19 | 2002 | 2020 | ||||||||
|
0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.849 | 53 | 1998 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.917 | 36 | 1998 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.917 | 24 | 1998 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 1.000 | 20 | 2005 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.944 | 18 | 2000 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 1.000 | 13 | 2003 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.060 | 0.833 | 6 | 2004 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.060 | 0.833 | 6 | 2005 | 2019 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.050 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 5 | 2017 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.040 | 0.750 | 4 | 2014 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
7 | 151007755 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 |