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 | 1.000 | 0.080 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 18 | 56267556 | regulatory region variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 18 | 58242398 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 203199346 | intergenic variant | A/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 18 | 56261410 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 1 | 202082885 | TF binding site variant | T/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 203190998 | upstream gene variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 203196253 | intergenic variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 8 | 27462388 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 60088059 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 60149310 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39955101 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 40041661 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39665182 | upstream gene variant | -/T | ins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 177741042 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39678288 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39997220 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 4 | 185378831 | 5 prime UTR variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 6 | 31154723 | missense variant | G/A | snv | 0.15 | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 2 | 177711953 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 6188652 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 39674782 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |