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 | 5 | 159177955 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 124621375 | intron variant | G/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 331490 | intron variant | T/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 29348208 | upstream gene variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 18 | 69869260 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 20 | 1944061 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.040 | 5 | 159176563 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 12 | 6180053 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 17 | 35617036 | intron variant | C/A;G | snv | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 10226118 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 270715 | intergenic variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 5 | 76727669 | intron variant | A/G | snv | 2.7E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 56661507 | downstream gene variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 14 | 105263455 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 106732457 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 240555596 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 5 | 88804134 | intron variant | G/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 59012716 | intergenic variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 14407569 | intron variant | C/T | snv | 0.27 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.040 | 2 | 31241519 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 13 | 113358583 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 14 | 103106478 | intron variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 205280322 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 17 | 29442580 | intron variant | G/A | snv | 0.58 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 112567997 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 |