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 | 0.925 | 0.120 | 3 | 113197356 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 15 | 74741059 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.160 | 10 | 36522408 | non coding transcript exon variant | T/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 11849866 | intergenic variant | A/G | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.240 | 17 | 7223984 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 1997 | 2007 | ||||
|
2 | 0.925 | 0.080 | 17 | 63496503 | missense variant | G/A | snv | 1.0E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 17 | 63477227 | missense variant | G/A;C;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 15 | 34797231 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.020 | 1.000 | 2 | 2012 | 2012 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.020 | 1.000 | 2 | 2002 | 2012 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 0.500 | 2 | 1997 | 2007 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 0.040 | 10 | 90917732 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.040 | X | 129648648 | missense variant | T/C;G | snv | 1.2E-05; 6.1E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.790 | 0.280 | 6 | 131572419 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 6 | 131574004 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 10 | 119676984 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 10 | 119676939 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 32409011 | upstream gene variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2015 | 2015 |