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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.800 | 1.000 | 3 | 2010 | 2014 | |||
|
1 | 3 | 126187336 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 9 | 98361054 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1 | 11898666 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 1 | 11778589 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10 | 17181245 | intron variant | A/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 89793345 | intron variant | T/C | snv | 7.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 89641688 | downstream gene variant | G/A | snv | 0.33 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 16 | 89642611 | downstream gene variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 19560244 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.800 | 1.000 | 4 | 2009 | 2018 | |||
|
5 | 0.925 | 0.160 | 10 | 17114152 | missense variant | A/G | snv | 0.73 | 0.72 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1 | 11899159 | regulatory region variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 12 | 120967323 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 236885376 | intron variant | G/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.827 | 0.200 | 21 | 43066854 | intron variant | C/T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 21 | 43067923 | non coding transcript exon variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 0.080 | 21 | 43067294 | intron variant | T/C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 7 | 90348446 | intron variant | A/G;T | snv | 0.52 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 45513003 | 3 prime UTR variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 7 | 56029572 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
9 | 0.925 | 0.120 | 9 | 133458632 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.200 | 6 | 25869143 | intron variant | G/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 21 | 43058387 | intron variant | C/T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 |