CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Atypical cystic fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. 18078365 2008
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. 18078365 2008
dbSNP: rs397508638
rs397508638
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis. 17127107 2007
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis. 17127107 2007
dbSNP: rs201124247
rs201124247
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype. 16478680 2006