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 | 6 | 143577757 | intron variant | A/G | snv | 4.8E-02 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 10 | 92677094 | intergenic variant | T/A;C;G | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
1 | 13 | 99304368 | intron variant | T/C | snv | 0.16 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||||
|
1 | 22 | 30174033 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 73222321 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 68805067 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 16 | 85977731 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 11 | 58571651 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 125523895 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 10 | 92742487 | TF binding site variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 12504579 | intron variant | A/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 85981275 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 218256940 | non coding transcript exon variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 18700310 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 6505557 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 68110056 | intron variant | C/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 10 | 79286696 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 50711025 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 13 | 26954210 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 17 | 27801261 | intron variant | ATTT/-;ATTTATTT;ATTTATTTATTT | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 19 | 18596702 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 21 | 15434390 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 169042362 | downstream gene variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 113586470 | intron variant | A/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 40137889 | downstream gene variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2015 | 2015 |