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 | 4 | 110409934 | intron variant | T/C | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 33204354 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 132431666 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 27288591 | intergenic variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 83065441 | intergenic variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 83066256 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 12 | 45537190 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 11 | 94538497 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 89680664 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 61510226 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 47565900 | missense variant | C/T | snv | 3.7E-02 | 3.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 8 | 14224308 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 17217746 | intron variant | A/T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 103171827 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 36425491 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 8 | 142916672 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 53544856 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 122991206 | 3 prime UTR variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 132430533 | intron variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 134554803 | intron variant | G/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 11 | 96709521 | intron variant | AT/- | del | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 84175474 | non coding transcript exon variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 54814185 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 113982069 | regulatory region variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 15618886 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 |