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 | 117664711 | frameshift variant | CA/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 0 | ||||||||||
|
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 | |||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509089 | missense variant | C/T | snv | 1.5E-03 | 4.3E-03 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 1999 | 1999 | ||||||
|
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 | |||||||
|
0.925 | 0.160 | 7 | 117559587 | inframe deletion | ATC/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117592213 | frameshift variant | AA/-;A;AAA;AAAA | delins | 7.7E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117590440 | splice donor variant | G/A;C;T | snv | 3.2E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509092 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
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 | ||||||
|
0.851 | 0.160 | 7 | 117540285 | missense variant | G/A | snv | 2.4E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 7 | 117587800 | missense variant | G/A;T | snv | 8.8E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
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 | ||||||
|
0.925 | 0.160 | 7 | 117592292 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117610593 | inframe deletion | ATAGTG/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117540157 | inframe deletion | TCT/- | delins | 7.0E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509128 | frameshift variant | TT/- | delins | 1.5E-04 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117534316 | frameshift variant | T/-;TT | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117592090 | frameshift variant | CTCAAAACT/A | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117592140 | frameshift variant | GAAATTCAATCCT/AGAAA | delins |
|
Male Urogenital Diseases | 0.700 | 0 |