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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 32014083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 27604964 | missense variant | A/C;G | snv | 0.64 | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 18 | 31595130 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.050 | 0.600 | 5 | 2013 | 2017 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 0.600 | 5 | 2013 | 2017 | ||||
|
6 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2007 | 2017 | |||||
|
16 | 0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 0.020 | 1.000 | 2 | 2001 | 2017 | |||
|
2 | 0.925 | 0.120 | 19 | 1061893 | splice region variant | G/A;C | snv | 2.5E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.160 | 10 | 93594018 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.100 | 0.931 | 29 | 1998 | 2018 | ||||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1991 | 2018 | ||||
|
3 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 0.030 | 1.000 | 3 | 1999 | 2018 | |||||
|
9 | 0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv | 0.030 | 1.000 | 3 | 1994 | 2018 | |||||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
2 | 0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 116836182 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |