| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | X | 67711662 | missense variant | G/A | snv | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 211381247 | 3 prime UTR variant | A/C | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 56834788 | intron variant | A/G | snv | 0.47 | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 151944233 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 6 | 161350185 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.080 | 5 | 157208978 | synonymous variant | T/C | snv | 1.6E-04 | 7.8E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 160348669 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
11 | 11962338 | 3 prime UTR variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.925 | 0.080 | 4 | 102600911 | missense variant | A/G | snv | 9.6E-05 | 3.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
4 | 102612593 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 10 | 31510817 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |