Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation BEFREE A total of 60 consecutive infertile males with a diagnosis of CAVD were subjected to CFTR gene analysis which revealed 13 different CFTR gene mutations and 1 intronic variant that led to aberrant splicing. p.Phe508del (n = 16) and p.Arg117His (n = 4) were among the most common severe forms of CFTR mutations identified. 24958810

2014
dbSNP: rs78655421
rs78655421
CFTR
0.880 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
CFTR
0.880 GeneticVariation BEFREE In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened. 22103471

2012
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation BEFREE Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively, and the allele frequency in CBAVD was 17% for F508del, 25% for 5T and 3% for R117H. 22081250

2012
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation BEFREE To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia. 21976147

2011
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. 19092437

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. 11491164

2001
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation BEFREE Another source of genetic variation, responsible for mild cystic fibrosis (CF) and/or congenital bilateral absence of the vas deferens, is the mutation R117H, located in exon 4 of CFTR. 11070158

2000
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation BEFREE DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. 11101688

2000
dbSNP: rs78655421
rs78655421
CFTR
0.880 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
CFTR
A 0.880 CausalMutation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096

1993
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation UNIPROT