| 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 | 7 | 55174771 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 86764643 | missense variant | T/C;G | snv | 9.4E-06; 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 6339497 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 9 | 17796670 | 3 prime UTR variant | T/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 57111075 | non coding transcript exon variant | C/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 17 | 78134989 | synonymous variant | G/A | snv | 0.54 | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 7 | 55191728 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 20 | 3083027 | frameshift variant | -/C | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 21 | 43066312 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 57232791 | missense variant | A/G | snv | 2.8E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 4 | 54716231 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 14 | 83448259 | intergenic variant | G/C | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 39321353 | missense variant | C/T | snv | 1.9E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 20 | 33675427 | upstream gene variant | A/C | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 20 | 33675156 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 23525295 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 23511068 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 23509302 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 6281212 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 57110791 | non coding transcript exon variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 4 | 54655993 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 12 | 64609189 | intron variant | T/C;G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 23533029 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 236803460 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |