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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 2 | 102959630 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.827 | 0.160 | 14 | 104766758 | intron variant | C/A;T | snv | 0.40 | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.763 | 0.240 | 14 | 104772855 | intron variant | T/C | snv | 0.50 | 0.47 | 0.050 | 0.800 | 5 | 2011 | 2019 | |||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2020 | |||||
|
4 | 0.882 | 0.040 | 13 | 105451011 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 13 | 105463160 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.040 | 13 | 105489886 | synonymous variant | C/A;T | snv | 0.27; 4.0E-06 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.807 | 0.120 | 13 | 105516850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.040 | 13 | 105545886 | intergenic variant | T/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 13 | 105999312 | intron variant | G/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.020 | 0.500 | 2 | 1998 | 2000 | |||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
4 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 |