CFTR, CF transmembrane conductance regulator, 1080
N. diseases: 476; N. variants: 673
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 7 | 117603730 | missense variant | G/A;C | snv | 5.6E-05; 8.0E-05 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 16 | 1995 | 2013 | |||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
Male Urogenital Diseases | 0.880 | 1.000 | 14 | 1993 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 117530957 | missense variant | C/G;T | snv | 6.0E-05 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117606695 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117592541 | stop gained | C/G;T | snv | 1.3E-04; 5.5E-06 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117559609 | missense variant | A/G | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
1.000 | 0.040 | 7 | 117587785 | missense variant | G/T | snv |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||||
|
1.000 | 0.040 | 7 | 117592464 | missense variant | G/A;C;T | snv | 4.5E-06 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
1.000 | 0.040 | 7 | 117592566 | missense variant | C/G;T | snv | 5.5E-06 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117531070 | stop gained | G/A;T | snv |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||||
|
0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | |||||||
|
1.000 | 0.040 | 7 | 117535399 | missense variant | T/A | snv |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||||
|
0.882 | 0.160 | 7 | 117642528 | missense variant | G/A;T | snv | 1.3E-03 |
|
Male Urogenital Diseases | 0.720 | 1.000 | 2 | 1999 | 2008 | |||||||
|
0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins |
|
Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
0.882 | 0.160 | 7 | 117559594 | missense variant | T/A;C;G | snv | 9.4E-04 |
|
Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.040 | 7 | 117664776 | missense variant | A/G | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 117540242 | missense variant | A/G | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.160 | 7 | 117548746 | missense variant | C/A;T | snv | 8.2E-06 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 7 | 117594961 | missense variant | C/G | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 7 | 117611682 | missense variant | G/C | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 7 | 117530989 | missense variant | T/C | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 117642588 | missense variant | C/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 7 | 117665523 | stop gained | G/A;T | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |