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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 7 | 118657790 | regulatory region variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 9 | 104826853 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 3 | 100894935 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 7 | 149941248 | intergenic variant | C/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 5 | 126557237 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.882 | 0.080 | 19 | 44912383 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 15 | 58179780 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.080 | 4 | 56517605 | intron variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 6 | 16745008 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
2 | 1.000 | 9 | 22084311 | intron variant | C/T | snv | 0.55 | 0.800 | 1.000 | 3 | 2011 | 2013 | |||||
|
5 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
3 | 1.000 | 0.040 | 9 | 22115590 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 9 | 22112600 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
3 | 1.000 | 0.080 | 9 | 22114470 | intron variant | G/C | snv | 0.64 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 1.000 | 0.040 | 9 | 22114496 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
5 | 0.882 | 0.120 | 9 | 22123767 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
4 | 1.000 | 0.040 | 9 | 22072265 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
6 | 0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 9 | 22065003 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 |