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 | 20 | 34977952 | missense variant | G/A;T | snv | 0.12 | 0.16 | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
2 | 20 | 34957813 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
2 | 2 | 127302492 | 3 prime UTR variant | C/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||||
|
2 | 2 | 127193421 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
2 | 20 | 35165459 | regulatory region variant | T/C | snv | 0.26 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
2 | 2 | 127401685 | downstream gene variant | G/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||||
|
2 | 2 | 127279984 | intron variant | A/G;T | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 34737712 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 2 | 127547621 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35131884 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35132230 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 33861523 | regulatory region variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35017295 | intron variant | C/T | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127332568 | intron variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35002614 | 3 prime UTR variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127570800 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35043604 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127584028 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35187397 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 35148894 | upstream gene variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127393427 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127365986 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127198967 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127438822 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 127374277 | non coding transcript exon variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 |