| 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 | 15 | 24719450 | intron variant | G/A | snv | 0.11 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 21629619 | intergenic variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 97027237 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 7 | 154587524 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 108934985 | intron variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 83219828 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 91911458 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 15307321 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 16 | 21240939 | intron variant | C/T | snv | 5.3E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 102780582 | missense variant | G/C | snv | 4.6E-02 | 7.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 6 | 151807942 | synonymous variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 14 | 100907636 | intron variant | A/G | snv | 0.84 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 26876559 | downstream gene variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 91906659 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 89198546 | intergenic variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 13 | 110501813 | intron variant | G/A;C | snv | 0.57 | 0.56 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 8 | 120197830 | synonymous variant | T/C | snv | 0.52 | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 8 | 120203752 | synonymous variant | T/C | snv | 0.52 | 0.57 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 8 | 120243911 | synonymous variant | T/C | snv | 0.12 | 8.8E-02 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 17 | 50188065 | non coding transcript exon variant | A/G | snv | 0.67 | 0.66 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 4 | 165417176 | intron variant | A/G | snv | 0.31 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 98272992 | upstream gene variant | A/G | snv | 0.46 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 134796954 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 2 | 56028361 | intron variant | T/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 13 | 110501812 | intron variant | C/T | snv | 0.42 | 0.38 | 0.010 | 1.000 | 1 | 2020 | 2020 |