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 | 14 | 102528212 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 103084051 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 103099825 | upstream gene variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 103106478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 14 | 103108733 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 103348238 | downstream gene variant | C/T | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 105892815 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 12 | 111077216 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 111141654 | intron variant | A/G;T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 12 | 112927816 | intron variant | A/G | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 8 | 113453042 | intron variant | C/T | snv | 8.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 116798457 | downstream gene variant | G/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 12 | 120982457 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 12 | 120982460 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
8 | 0.925 | 0.160 | 12 | 120986153 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 12 | 121004867 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
3 | 12 | 121033534 | synonymous variant | G/A | snv | 0.32 | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 9 | 128704210 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 |