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 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114907019 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114856029 | intron variant | A/C | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114917522 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114901931 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114901892 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114915956 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114907419 | intron variant | A/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 9 | 114801407 | intron variant | T/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 13 | 20365097 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 1 | 67266920 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.040 | 5 | 40386453 | regulatory region variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 6 | 29266733 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 5 | 40393503 | intergenic variant | A/C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67264945 | downstream gene variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 191590226 | intergenic variant | A/T | snv | 0.82 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 10 | 119345799 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 16 | 50658453 | intergenic variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67059360 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 1 | 67124778 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 67135449 | intron variant | G/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 0.882 | 0.080 | 1 | 67157615 | intron variant | G/A;T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 |