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 | 8 | 144096675 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 32750105 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 193643430 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 74758878 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 100989213 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 100989791 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 14 | 22768050 | frameshift variant | -/CAGAGCAG | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 17 | 18305208 | stop gained | G/A;T | snv | 1.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | MT | 15197 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 12 | 104327633 | synonymous variant | T/C | snv | 1.2E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 16 | 1985996 | missense variant | C/T | snv | 3.2E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 6 | 151436526 | missense variant | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 8 | 102238827 | splice region variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 13 | 32332532 | missense variant | T/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 5 | 74746138 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 5 | 74747731 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 6 | 151433213 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 22769791 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 151427481 | splice donor variant | C/T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 32750046 | inframe insertion | -/TGATCAGACATGACCTCC | delins | 1.6E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 1984415 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 151405734 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 151436494 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 151405719 | splice donor variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | MT | 12271 | non coding transcript exon variant | T/C | snv | 0.700 | 0 |