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 | ||||||
|
2 | 1.000 | 14 | 73961339 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
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 | ||||||
|
2 | 1.000 | X | 108655388 | frameshift variant | G/- | del | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 9 | 136508308 | missense variant | G/A;C | snv | 1.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 116447754 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 19 | 35831056 | stop gained | G/A | snv | 9.9E-05 | 0.700 | 1.000 | 3 | 2002 | 2008 | ||||
|
2 | 1.000 | 0.080 | 6 | 32660146 | 3 prime UTR variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 71404009 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 9 | 136509318 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |