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 | 16 | 56951643 | TF binding site variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 21246464 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 11 | 117072638 | intron variant | A/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 75147307 | missense variant | C/G;T | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 21077898 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 5 | 75274706 | intergenic variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 15 | 58388606 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 16 | 56839877 | 3 prime UTR variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 21048451 | upstream gene variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 48965987 | downstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 19 | 44823511 | downstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 0.925 | 0.120 | 2 | 27578626 | missense variant | T/C | snv | 0.31 | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.040 | 16 | 68251944 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 75117888 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
9 | 0.827 | 0.080 | 15 | 58388755 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 19 | 45192480 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 0.882 | 0.160 | 16 | 56935236 | missense variant | G/A | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 3 | 159541502 | intron variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 16 | 56832284 | intron variant | T/C | snv | 1.0E-01 | 9.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 48136317 | intron variant | T/C | snv | 0.58 | 0.48 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 75307654 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 8 | 20017589 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 16 | 68120959 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 16 | 56950851 | regulatory region variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 |