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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 11 | 5204405 | upstream gene variant | G/C | snv | 0.21 | 0.800 | 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 | 5 | 43909241 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | 17 | 12496210 | intergenic variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 11 | 4571047 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 7 | 53609144 | intergenic variant | G/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 45998628 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 4 | 143781321 | intron variant | A/G | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 43004178 | downstream gene variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | X | 154527122 | downstream gene variant | G/A | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 14 | 45965382 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 67273345 | upstream gene variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 67265931 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 99508600 | upstream gene variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 9 | 133245916 | downstream gene variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 9 | 133257521 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 9 | 133266772 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.851 | 0.160 | 9 | 133262254 | intron variant | C/T | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 133260460 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 |