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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 6 | 159042420 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | |||||||
|
1 | 6 | 160534681 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 160610628 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 6 | 160608638 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 160527104 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 160446240 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 160590288 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 160653951 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 158684381 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 6 | 160601075 | missense variant | C/A;T | snv | 1.6E-05; 7.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 160532610 | missense variant | A/G;T | snv | 2.1E-02; 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 6 | 160585045 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 6 | 160472135 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.040 | 6 | 160598834 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 6 | 160399890 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 161233083 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 13 | 50055529 | intron variant | T/C | snv | 2.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50339520 | intron variant | G/C | snv | 2.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 51297734 | TF binding site variant | A/C | snv | 3.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50642135 | intron variant | G/A | snv | 3.4E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 50810602 | intron variant | C/T | snv | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 49688450 | intron variant | T/A | snv | 5.8E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 159774018 | intron variant | A/G | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 160382662 | intron variant | C/T | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 160378214 | intron variant | T/C | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |