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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.120 | 3 | 186742138 | missense variant | T/C | snv | 0.42 | 0.44 | 0.800 | 1.000 | 3 | 2010 | 2013 | |||
|
3 | 0.925 | 0.160 | 3 | 186672838 | missense variant | C/T | snv | 0.38 | 0.43 | 0.800 | 1.000 | 3 | 2010 | 2013 | |||
|
8 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 0.800 | 1.000 | 2 | 2013 | 2018 | |||
|
5 | 5 | 177414338 | intron variant | T/C | snv | 0.56 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
3 | 4 | 186274397 | 3 prime UTR variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.120 | 6 | 32371299 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 15 | 86648746 | intron variant | A/G | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 5 | 177415473 | intron variant | T/C | snv | 0.66 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 169582444 | synonymous variant | T/C | snv | 0.29 | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 3 | 186677647 | missense variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 154616169 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 177429924 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186721384 | non coding transcript exon variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186721146 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 186732280 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 3 | 186676249 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 5 | 177403626 | non coding transcript exon variant | G/A;C;T | snv | 0.52; 6.2E-04; 1.8E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 3 | 186743392 | 3 prime UTR variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.080 | 3 | 186677324 | missense variant | A/G;T | snv | 0.20; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 5 | 177433292 | intron variant | T/C | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 4 | 186251126 | non coding transcript exon variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 3 | 186729258 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 |