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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 | 0.710 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 117963766 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 73962780 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 3 | 28340470 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 7 | 116511284 | downstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 19 | 50362252 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.600 | 5 | 2005 | 2018 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.851 | 0.040 | 14 | 60606157 | upstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 | 0.730 | 1.000 | 4 | 2007 | 2017 | |||
|
1 | 1.000 | 0.040 | 8 | 107266388 | intron variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 16 | 3757288 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 165745179 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 9 | 22053688 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.040 | 11 | 16987058 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.050 | 0.600 | 5 | 2004 | 2016 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.040 | 0.500 | 4 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 22253498 | intron variant | A/C | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 597203 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 5 | 111110280 | missense variant | G/A | snv | 7.5E-04 | 8.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 |