Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations. 7532150

1995

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T). 30269055

2019

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of the variable phenotype associated with R117H mutation. 18078365

2008

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1283148

1992

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. 15246977

2004

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres. 28978796

2017

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. 10653141

2000

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation. 15997883

2005

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Generally, p.Arg117His-5T patients had more severe CF disease. 30279124

2019

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations. 9259194

1997

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. 11737931

2001

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. 9591500

1998

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Patients with CBAVD carrying p.Arg117His and a severe CF mutation should benefit from a clinical evaluation and follow-up. 23378603

2013

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene. 17015492

2006

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Molecular basis of hereditary pancreatitis. 10909845

2000

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913

2015