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 | 0.040 | 1 | 196791287 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 10 | 111334279 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 11 | 45160131 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 41711648 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 19 | 49916142 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 105417143 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 0.925 | 0.080 | 10 | 79164105 | intron variant | C/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 11 | 94188644 | non coding transcript exon variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 16 | 55810705 | intron variant | G/A | snv | 0.52 | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 21 | 18347109 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 124459809 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 18 | 74138268 | intron variant | C/T | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 20 | 53885423 | TF binding site variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 8 | 134018372 | intergenic variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 2 | 174134460 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 109168863 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 11 | 88943686 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 8 | 39210657 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2009 | ||||
|
19 | 0.695 | 0.440 | 1 | 196740644 | missense variant | G/T | snv | 0.20 | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 9 | 121030401 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 22 | 30210575 | upstream gene variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.080 | 9 | 120962749 | stop gained | G/A | snv | 7.6E-05 | 1.7E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 5 | 40955428 | missense variant | G/A;C;T | snv | 1.6E-05; 1.3E-04; 5.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
10 | 0.790 | 0.200 | 13 | 46055808 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |