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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.810 | 1.000 | 4 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 203684896 | intron variant | G/T | snv | 0.81 | 0.810 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 1.000 | 0.040 | 11 | 5204405 | upstream gene variant | G/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 11 | 4769345 | synonymous variant | A/G | snv | 9.5E-02 | 9.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 11 | 110870290 | intergenic variant | A/G | snv | 0.55 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 5496926 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 17 | 10670842 | downstream gene variant | C/T | snv | 0.31 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 184932501 | intron variant | A/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.120 | 9 | 133257521 | frameshift variant | -/C | ins | 0.37 | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 16 | 83327170 | intron variant | T/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 5227003 | frameshift variant | CA/- | del | 0.700 | 1.000 | 2 | 2009 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 231014025 | 3 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 110868831 | intergenic variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 126753075 | intron variant | T/- | delins | 0.94 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 43909241 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 189796550 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 75969735 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 11 | 4772889 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 4785824 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 11 | 4785642 | intron variant | T/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 4786742 | intron variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 75971511 | intron variant | G/A | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 13 | 107575665 | intron variant | A/G | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 12496210 | intergenic variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 1 | 2018 | 2018 |