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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.849 | 53 | 1998 | 2019 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
11 | 0.763 | 0.320 | 7 | 151012483 | 3 prime UTR variant | G/T | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.790 | 0.360 | 7 | 150990599 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.925 | 0.080 | 7 | 150993088 | intron variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 4 | 2015 | 2018 | ||||
|
2 | 0.925 | 0.040 | 7 | 151000245 | intron variant | C/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 7 | 151011214 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 150997170 | intron variant | AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC | delins | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 7 | 151009295 | intron variant | C/A;G;T | snv | 0.83; 4.0E-05; 3.1E-05; 4.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 7 | 151002789 | intron variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 151006827 | intron variant | G/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 |