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 | 1.000 | 0.120 | 16 | 88643474 | missense variant | G/T | snv | 0.710 | 1.000 | 2 | 1994 | 2010 | |||||
|
2 | 1.000 | 0.120 | 1 | 183574605 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.120 | X | 37803886 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.120 | X | 37803890 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1 | 183574507 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1 | X | 67545583 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 74785283 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.120 | X | 37783510 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
2 | 1.000 | 0.120 | X | 37803991 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | X | 37795999 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | X | 37798972 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.120 | X | 37793716 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 183574509 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
1 | 22 | 36864943 | frameshift variant | -/AAGGAGGATC | delins | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 1.000 | 0.120 | 7 | 74777267 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 28589481 | missense variant | G/A;C;T | snv | 1.2E-05; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
2 | 1.000 | 22 | 36867434 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.160 | X | 37793674 | missense variant | C/T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 3 | 10032957 | frameshift variant | TCAG/- | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
3 | 0.925 | 0.160 | 16 | 88643420 | missense variant | A/C;G | snv | 8.0E-06; 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 7 | 74783529 | stop gained | G/A | snv | 6.9E-04 | 5.3E-04 | 0.030 | 1.000 | 3 | 2018 | 2018 | |||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 |