Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
C 0.710 GeneticVariation CLINVAR Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. 22423042

2012
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
C 0.710 GeneticVariation CLINVAR Patient 2, an Indian female diagnosed with CF on newborn screening, is compound heterozygous for V456A/R709X. 22395041

2012
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
0.710 GeneticVariation BEFREE Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians. 22395041

2012
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
C 0.710 GeneticVariation CLINVAR Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. 17035430

2006
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
C 0.710 GeneticVariation CLINVAR Demographics of the UK cystic fibrosis population: implications for neonatal screening. 12357328

2002
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
C 0.710 CausalMutation CLINVAR