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 | 1.000 | 0.080 | 4 | 4717767 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 21 | 37652469 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 16 | 53786154 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 21 | 37638374 | intron variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37617262 | 3 prime UTR variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 4 | 161890417 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 21 | 37705475 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 15 | 77516256 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 10 | 119445148 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681768 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681654 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37681559 | intron variant | T/A;G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 7 | 115311376 | intergenic variant | -/CAA | ins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 2 | 55278320 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 21 | 37649639 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37630840 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 21 | 37710283 | intron variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 2 | 129236759 | intergenic variant | A/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 21 | 37664047 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 21 | 37663909 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 |