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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.040 | 4 | 88962828 | intron variant | C/T | snv | 0.53 | 0.840 | 1.000 | 6 | 2010 | 2015 | ||||
|
7 | 0.925 | 0.040 | 4 | 144565237 | intron variant | A/G | snv | 0.33 | 0.830 | 1.000 | 4 | 2010 | 2017 | ||||
|
8 | 1.000 | 0.040 | 4 | 144585304 | intron variant | T/C | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
5 | 1.000 | 0.040 | 4 | 144559628 | intron variant | A/G | snv | 0.43 | 0.820 | 1.000 | 4 | 2009 | 2013 | ||||
|
2 | 1.000 | 0.040 | 14 | 94614674 | missense variant | T/A;C | snv | 0.030 | 1.000 | 3 | 1993 | 2000 | |||||
|
4 | 0.882 | 0.040 | 19 | 41323701 | 3 prime UTR variant | G/A | snv | 0.15 | 0.030 | 0.667 | 3 | 2011 | 2017 | ||||
|
4 | 1.000 | 0.040 | 3 | 128242335 | intron variant | T/A | snv | 0.89 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
4 | 1.000 | 0.040 | 6 | 142347764 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 141084419 | intron variant | C/A | snv | 0.31 | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78490935 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
3 | 1.000 | 0.040 | 15 | 71320175 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
3 | 1.000 | 0.040 | 2 | 228705203 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 223993376 | intron variant | A/G | snv | 0.10 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
4 | 1.000 | 0.040 | 15 | 78461760 | intron variant | A/G | snv | 0.29 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 4 | 105215876 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 108945052 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
9 | 1.000 | 0.040 | 4 | 88947927 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 85668581 | intron variant | C/T | snv | 0.17 | 0.020 | 0.500 | 2 | 2008 | 2011 | ||||
|
3 | 1.000 | 0.040 | 15 | 78606590 | intron variant | C/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 20115561 | missense variant | T/C | snv | 0.66 | 0.70 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
1 | 1.000 | 0.040 | 18 | 8808466 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 41324701 | 3 prime UTR variant | T/C | snv | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 79945677 | intron variant | C/T | snv | 0.20 | 0.710 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.882 | 0.040 | 2 | 223980202 | non coding transcript exon variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 |