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 | |||||||
|
0.925 | 0.160 | 7 | 117548630 | intron variant | T/G | snv | 8.6E-03; 5.9E-05 | 9.0E-03 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 10 | 1992 | 2007 | ||||||
|
0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 |
|
Male Urogenital Diseases | 0.080 | 1.000 | 8 | 1998 | 2018 | ||||||
|
0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | ||||||
|
0.827 | 0.160 | 7 | 117592032 | missense variant | G/A | snv | 1.0E-04 | 3.8E-04 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | ||||||
|
0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | ||||||
|
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 | 117592169 | missense variant | C/A;T | snv | 6.0E-03 | 6.1E-03 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||
|
0.925 | 0.160 | 7 | 117592588 | missense variant | A/G | snv | 7.7E-04 | 4.4E-04 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||
|
0.882 | 0.160 | 7 | 117610521 | missense variant | G/C | snv | 2.3E-03 | 2.1E-03 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||
|
0.925 | 0.160 | 7 | 117536576 | missense variant | A/G | snv | 1.8E-04 | 1.1E-04 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2009 | ||||||
|
1.000 | 0.040 | 7 | 117504348 | missense variant | C/A | snv | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 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 | |||||||
|
1.000 | 0.040 | 7 | 117603750 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||
|
1.000 | 0.040 | 7 | 117606704 | missense variant | T/A | snv | 8.0E-06 | 2.8E-05 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1996 | 2011 | ||||||
|
1.000 | 0.040 | 7 | 117614703 | missense variant | T/A | snv | 3.2E-05 | 2.8E-05 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||
|
1.000 | 0.040 | 7 | 117664815 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
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 |