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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 1 | 197435035 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 9 | 2718093 | frameshift variant | CC/-;CCC | delins | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 6 | 38791670 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 11 | 61955892 | missense variant | G/A | snv | 5.2E-04 | 3.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 6 | 79947369 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 6 | 79947515 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 0.925 | 0.120 | 8 | 86628994 | missense variant | A/C;T | snv | 5.9E-04; 4.4E-05 | 0.800 | 0 | |||||||
|
8 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 93996137 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 93997869 | missense variant | G/A;C | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 93997877 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 1 | 93997904 | missense variant | A/G | snv | 6.8E-05 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
2 | 0.925 | 0.040 | 1 | 93997932 | stop gained | G/A;T | snv | 5.2E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | ||||
|
1 | 1.000 | 1 | 93997943 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2017 | |||||
|
1 | 1.000 | 1 | 93997981 | stop gained | G/T | snv | 0.700 | 1.000 | 3 | 2000 | 2017 | ||||||
|
1 | 1.000 | 1 | 93998075 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2017 | ||||||
|
1 | 1.000 | 1 | 94000836 | missense variant | T/C | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
2 | 0.925 | 0.080 | 1 | 94000866 | missense variant | C/T | snv | 2.4E-05 | 4.9E-05 | 0.800 | 1.000 | 25 | 1997 | 2017 | |||
|
1 | 1.000 | 1 | 94000867 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94000869 | missense variant | C/A;T | snv | 5.6E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
5 | 0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.710 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 1 | 94000900 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94000924 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94001000 | splice donor variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2003 | 2017 |