CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Congenital bilateral aplasia of vas deferens ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens. 28776713 2018
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. 24551851 2014
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population. 22842702 2012
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE 5T/M470 genotype was found in 19 patients, 5T/V470 was found in 3 and 5T with heterozygote form of M470V was found in 24 CBAVD patients. 16714368 2006
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE In order to improve genetic counselling of these couples, the TG-M470V-5T association was analyzed, and a statistically significant relationship between 12TG-V470 and CBAVD was detected. 15870824 2005
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE The frequency of p.M470V in Taiwanese CBAVD patients is not significantly different from that in the general population (P = 0.12). 15905293 2005
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries a [TG11T7; p.Phe508Cys; p.Met470Val] haplotype on the other chromosome. 15580565 2005
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.080 GeneticVariation BEFREE The statistical analysis showed strong linkage disequilibrium between the 5T allele and the V allele of the M470V polymorphism in the CBAVD population, but not in the normal population. 9678705 1998