Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35516286
rs35516286
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 GeneticVariation BEFREE The p.[Ile148Thr;Ile1023_Val1024del] caused severe CF in five compound heterozygous with a class I-II mutation. 27738188

2017
dbSNP: rs35516286
rs35516286
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 GeneticVariation BEFREE We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T. 15371908

2005
dbSNP: rs35516286
rs35516286
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 GeneticVariation BEFREE Four CF patients (out of 1238) originally identified as carrying the p.I148T mutation in trans with a CF mutation had a second mutation (c.3199del6 or a novel mutation c.3395insA) on the p.I148T allele. 15287992

2004
dbSNP: rs35516286
rs35516286
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 GeneticVariation BEFREE It is concluded that I148T occurs on at least three haplotypes and the complex allele I148T + 9T + 3199del6 is associated with a classic CF phenotype. 12394343

2003