rs213950, CFTR-AS1;CFTR

N. diseases: 16
Disease: Lung diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung diseases
CUI: C0024115
Disease: Lung diseases
0.010 GeneticVariation BEFREE These data suggest that the 5T polythymidine tract sequence on specific haplotype backgrounds (TG12 and M470V) may cause a low level of full-length functional CFTR protein and CF-like lung disease. 11069835 2000