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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 21250045 | intergenic variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 100243731 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 76732662 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.040 | 7 | 99946004 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 100505900 | upstream gene variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 99335136 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 20 | 4899662 | synonymous variant | G/A | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 7 | 99689016 | intron variant | C/T | snv | 2.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 69096657 | missense variant | T/C | snv | 2.6E-03 | 2.8E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 20 | 4970713 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 99823462 | upstream gene variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 202307363 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.040 | 15 | 44000939 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 3 | 15633655 | intron variant | T/G | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 11 | 26141193 | intergenic variant | G/A | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 10 | 17031136 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 3 | 60942161 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 4 | 38941227 | intron variant | T/C | snv | 8.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 15 | 44272494 | intergenic variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 7 | 7995866 | intron variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 14 | 73609035 | intron variant | A/G | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 4 | 47371654 | intron variant | TGT/- | delins | 2.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 6 | 126276990 | intergenic variant | A/G | snv | 1.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 16 | 75549741 | intron variant | C/T | snv | 6.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 20 | 23661790 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |