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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 1 | 236016569 | intron variant | A/G;T | snv | 0.810 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 22 | 38148291 | non coding transcript exon variant | A/G | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 9 | 21747804 | intergenic variant | A/G | snv | 0.61 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 22 | 38172999 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 9 | 21715891 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 21715802 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 21826841 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 21789581 | TF binding site variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 9 | 21808914 | 5 prime UTR variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 22 | 38149935 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 21828111 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 9 | 21827407 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 9 | 21827993 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 22 | 38201371 | non coding transcript exon variant | G/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 22 | 38218122 | upstream gene variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 9 | 21716998 | intergenic variant | A/C;G | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 9 | 21816759 | missense variant | G/A | snv | 0.40 | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.120 | 9 | 21817755 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 22 | 38161319 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.925 | 0.080 | 10 | 87933075 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.280 | 10 | 87952143 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 |