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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2008 | 2013 | |||||
|
1 | 8 | 70196313 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 10 | 63515167 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 9 | 101460951 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 10 | 63358443 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 0.882 | 0.080 | 11 | 126406065 | 5 prime UTR variant | T/A;C | snv | 6.4E-06; 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 8 | 118947686 | intron variant | A/C;T | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 107664388 | intron variant | T/A | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 291521 | non coding transcript exon variant | A/T | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 24549087 | intron variant | C/T | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 296255 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 10 | 63361805 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 6 | 24427826 | 3 prime UTR variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 20592062 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 21024072 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32400783 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 24512970 | intron variant | G/A | snv | 2.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 168984064 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 6 | 24462792 | missense variant | G/C | snv | 0.12 | 0.10 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.925 | 0.080 | 11 | 61855668 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 16 | 79708493 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 |