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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 23584632 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 22 | 24748945 | missense variant | C/G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 25268869 | intergenic variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 42603608 | synonymous variant | A/T | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 1 | 179342120 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 107056636 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 19 | 4908263 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 23528117 | 3 prime UTR variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 20 | 1937841 | 3 prime UTR variant | G/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 11281137 | missense variant | C/A;G | snv | 8.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 42691014 | intron variant | T/C;G | snv | 0.49; 5.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 42564364 | missense variant | C/G;T | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 107058247 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 94621313 | 3 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 86828144 | missense variant | G/A | snv | 2.3E-03 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 19 | 4909617 | missense variant | C/G | snv | 0.38 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 3 | 37016100 | intron variant | C/T | snv | 0.35 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 135230056 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 8 | 27544615 | 3 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 30230805 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 9 | 25233486 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 7 | 5992006 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 22 | 50776482 | intron variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 45208496 | missense variant | G/A | snv | 1.0E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 2.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 |