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 | 1.000 | 0.080 | 12 | 57581917 | missense variant | C/G;T | snv | 4.0E-06; 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 27519175 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 27553878 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 8 | 125070323 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 50709898 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 4 | 36077972 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 17642430 | intron variant | C/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 131994722 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 6 | 49956357 | downstream gene variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 22 | 38737798 | 3 prime UTR variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 64030063 | intergenic variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27559735 | non coding transcript exon variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 8 | 2563763 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 27478054 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 51613219 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 9 | 27502988 | intron variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27579562 | intergenic variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27409266 | intron variant | T/G | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 27572636 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27572257 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 155957961 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27586164 | intergenic variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27599748 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 48012082 | intron variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 |