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 | 3 | 56815721 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 6 | 33572432 | intron variant | A/G | snv | 0.72 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
24 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 11 | 243268 | non coding transcript exon variant | T/G | snv | 0.28 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
6 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||
|
1 | 22 | 19996754 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 17 | 35557785 | missense variant | T/C | snv | 0.21 | 0.19 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 10 | 63267850 | intron variant | A/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2011 | 2019 | ||||||
|
3 | 1 | 171980610 | intron variant | T/C | snv | 0.78 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 23141009 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2019 | |||||||
|
2 | 11 | 202856 | intron variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2014 | 2019 | ||||||
|
1 | 14 | 102573750 | regulatory region variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 9 | 134060541 | intron variant | G/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
25 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 1 | 2011 | 2018 | |||
|
3 | 9 | 4814948 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1 | 205268009 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 43460740 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 64891602 | intron variant | A/G | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 45237513 | intron variant | C/T | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 76751114 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 132484229 | non coding transcript exon variant | C/A;T | snv | 0.52 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 1 | 11986006 | intron variant | G/T | snv | 0.65 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 106718770 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2019 |