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 | 0.080 | 20 | 42472359 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37004421 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37004412 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47480707 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47480846 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47480854 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47403240 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37048525 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47480839 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116771932 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116759444 | missense variant | C/T | snv | 1.2E-04 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 68822082 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 2 | 102397842 | 3 prime UTR variant | T/G | snv | 0.23 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 2 | 113131082 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.160 | 8 | 127375606 | intron variant | T/C | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2018 | 2018 |