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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 1.000 | 28 | 2010 | 2019 | ||||
|
6 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.830 | 1.000 | 4 | 2012 | 2018 | |||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 2293080 | intron variant | A/G;T | snv | 0.710 | 1.000 | 3 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 2237227 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 1.000 | 0.040 | 12 | 2402665 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 2404143 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 2061267 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 0.882 | 0.040 | 12 | 2311360 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 2404946 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 2212702 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 12 | 2113566 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 12 | 2514377 | intron variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 2228294 | intron variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 2115062 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 12 | 2241286 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 |