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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.160 | 13 | 102870617 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.040 | 14 | 103135941 | missense variant | A/G | snv | 0.64 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.807 | 0.080 | 14 | 103137232 | 3 prime UTR variant | C/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 14 | 103137233 | 3 prime UTR variant | G/A;C;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 14 | 103137316 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 14 | 103698904 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 1.000 | 4 | 2002 | 2011 | |||
|
8 | 0.827 | 0.160 | 14 | 104766758 | intron variant | C/A;T | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 13 | 110719667 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719736 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 110719739 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 12 | 111774029 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 1.000 | 0.040 | 9 | 115141569 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.160 | 5 | 115625723 | synonymous variant | G/A | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 115841317 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
|
4 | 0.851 | 0.200 | 1 | 11796244 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2007 | 2012 | |||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 |