Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141033578
rs141033578
CFTR
0.020 GeneticVariation BEFREE Finally, compounds heterozygous for the c.[1210-34TG[12];1210-12T[5];2930C>T] and a class I-II mutation had mild CF or CFTR-RD (gating activity: 18.5-19.0%). 27738188

2017
dbSNP: rs141033578
rs141033578
CFTR
0.020 GeneticVariation BEFREE Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation. 23361109

2013