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 | 0.925 | 0.040 | 10 | 126036209 | synonymous variant | A/G | snv | 0.27 | 0.26 | 0.030 | 0.667 | 3 | 2014 | 2017 | |||
|
1 | 1.000 | 0.040 | 9 | 114146866 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.810 | 1.000 | 2 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 15 | 67078107 | intron variant | G/A | snv | 0.45 | 0.020 | 0.500 | 2 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 10 | 126093840 | intron variant | C/A;T | snv | 0.020 | 0.500 | 2 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 235709582 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 67164997 | missense variant | A/G;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 9 | 4295583 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 44809954 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 12 | 89933142 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 59047450 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 7 | 96089185 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 18 | 28180064 | upstream gene variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 4 | 1702517 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 8 | 8666851 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 6 | 45177665 | intron variant | C/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 191807255 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 10 | 126064909 | missense variant | G/A;C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.040 | 19 | 2177194 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.040 | 9 | 92466765 | intron variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 151944332 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 65812468 | intron variant | T/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 76819138 | 5 prime UTR variant | C/G;T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 33179950 | intron variant | G/A | snv | 2.9E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 |