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 | 8 | 57928365 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 98223945 | intergenic variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 2 | 57995793 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 7 | 29178543 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1.000 | 0.040 | 7 | 20828189 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 18 | 50714891 | intron variant | C/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | X | 123183391 | upstream gene variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 50719733 | intron variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 18 | 50674143 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 20 | 19870811 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 105999312 | intron variant | G/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | X | 123403426 | synonymous variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | X | 43867148 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 20 | 38329435 | intron variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 19871859 | non coding transcript exon variant | G/A | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 20 | 19232246 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 3 | 170445686 | intron variant | G/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 11 | 113573031 | intergenic variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | X | 145059799 | downstream gene variant | T/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 6 | 27123646 | upstream gene variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 27281152 | downstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 |