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 | 4 | 75025495 | intron variant | G/A | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 91551559 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 9932324 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 116466215 | upstream gene variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 135332717 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 32591976 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32694503 | intergenic variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 85479802 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32689766 | TF binding site variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 187880609 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 74763902 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 49987403 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 32661035 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 32390772 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 6 | 85465856 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.060 | 0.833 | 6 | 2004 | 2019 | |||
|
16 | 0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 |