| 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 | 17 | 27214252 | intergenic variant | A/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.080 | 0.875 | 8 | 2011 | 2017 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.040 | 0.750 | 4 | 2014 | 2017 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.851 | 0.120 | 16 | 16083418 | missense variant | G/A | snv | 2.3E-02 | 1.3E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 16 | 16079375 | missense variant | G/T | snv | 3.8E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 |
|
0.040 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.800 | 0.943 | 105 | 2001 | 2020 | |||||||||
|
0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv |
|
0.730 | 1.000 | 18 | 2001 | 2014 | |||||||||
|
0.851 | 0.120 | 9 | 130862970 | missense variant | T/C | snv |
|
0.700 | 1.000 | 16 | 2002 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130873004 | missense variant | T/C | snv |
|
0.710 | 1.000 | 15 | 2002 | 2014 | |||||||||
|
0.851 | 0.080 | 9 | 130873027 | missense variant | T/A;C;G | snv |
|
0.740 | 1.000 | 14 | 2003 | 2014 | |||||||||
|
0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv |
|
0.710 | 1.000 | 12 | 2002 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130862977 | missense variant | A/T | snv |
|
0.700 | 1.000 | 10 | 2001 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130862943 | missense variant | A/G | snv |
|
0.710 | 1.000 | 10 | 2002 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130873016 | missense variant | A/G | snv |
|
0.700 | 1.000 | 8 | 2002 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130862962 | missense variant | G/A | snv |
|
0.700 | 1.000 | 8 | 2002 | 2014 | |||||||||
|
0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv |
|
0.710 | 1.000 | 8 | 2002 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 130862955 | missense variant | C/G | snv |
|
0.700 | 1.000 | 6 | 2003 | 2014 | |||||||||
|
1.000 | 0.080 | 9 | 130862969 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 6 | 2002 | 2014 | |||||||||
|
0.925 | 0.080 | 9 | 130862971 | missense variant | A/T | snv |
|
0.720 | 1.000 | 6 | 2002 | 2014 |