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 | 16 | 172976 | missense variant | G/C;T | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 173244 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
1 | 16 | 176780 | missense variant | G/A;C | snv | 6.1E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 16 | 177048 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2000 | 2006 | |||
|
3 | 0.925 | 0.080 | 11 | 5225485 | 3 prime UTR variant | T/C | snv | 0.700 | 1.000 | 5 | 1991 | 2010 | |||||
|
2 | 1.000 | 0.080 | 11 | 5225592 | 3 prime UTR variant | G/A;C;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 11 | 5225606 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 4 | 1975 | 1997 | ||||||
|
1 | 11 | 5225638 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.080 | 11 | 5225662 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 11 | 5225668 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 5 | 1969 | 2016 | |||||||
|
2 | 1.000 | 0.080 | 11 | 5225695 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 11 | 5225698 | missense variant | A/G | snv | 0.710 | 1.000 | 4 | 1994 | 2002 | |||||
|
6 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
2 | 1.000 | 0.080 | 11 | 5226597 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1972 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 5226615 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 5226635 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 5226657 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 11 | 5226693 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 5226716 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 5226716 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 5226745 | frameshift variant | -/AGAT | delins | 8.0E-06 | 0.700 | 1.000 | 4 | 1994 | 2013 | ||||||
|
4 | 0.882 | 0.080 | 11 | 5226762 | stop gained | C/A;G;T | snv | 2.8E-04; 4.0E-06 | 0.700 | 1.000 | 5 | 1988 | 2014 | ||||
|
2 | 1.000 | 0.080 | 11 | 5226763 | inframe deletion | AAA/- | del | 0.700 | 0 |