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 | 0.040 | 7 | 107604100 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 6 | 32701596 | downstream gene variant | C/T | snv | 2.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 96632322 | intergenic variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 17 | 2222311 | intron variant | G/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 1 | 202500595 | intron variant | T/C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 7 | 151423862 | upstream gene variant | T/A;C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 12888772 | intron variant | C/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 147126398 | intron variant | C/T | snv | 0.70 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 35067023 | intron variant | G/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 155590307 | intergenic variant | G/T | snv | 0.50 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.851 | 0.160 | 15 | 78787892 | intron variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 19745816 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 17 | 2223210 | intron variant | G/C | snv | 0.35 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 3 | 138401110 | intron variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 10 | 30046193 | intron variant | T/C | snv | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 14 | 99667605 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 159225301 | intron variant | T/C | snv | 0.38 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 10 | 30027143 | missense variant | C/A;G | snv | 4.0E-06; 0.38 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 12 | 110912851 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 15 | 84545426 | intron variant | T/C | snv | 5.6E-05 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.120 | 15 | 78818751 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.120 | 17 | 48911235 | non coding transcript exon variant | C/T | snv | 0.40 | 0.800 | 1.000 | 1 | 2011 | 2011 |