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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 8 | 118956736 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 118958540 | regulatory region variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118960457 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 118962469 | regulatory region variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118963431 | intergenic variant | C/T | snv | 0.34 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 8 | 118963905 | intergenic variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118964017 | intergenic variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 8 | 118964303 | intergenic variant | C/A | snv | 0.40 | 0.800 | 1.000 | 2 | 2009 | 2013 | ||||||
|
1 | 8 | 118964838 | intergenic variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 8 | 118965553 | intergenic variant | G/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 8 | 118967830 | intergenic variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118973996 | upstream gene variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118981450 | downstream gene variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118991488 | upstream gene variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118993841 | upstream gene variant | T/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 8 | 118995181 | upstream gene variant | T/A | snv | 0.67 | 0.800 | 1.000 | 3 | 2009 | 2013 | ||||||
|
1 | 8 | 118995469 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 118996035 | intron variant | C/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118996132 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||||
|
1 | 8 | 118996348 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 118997770 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 118998281 | intron variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 118999092 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |