Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508282
rs397508282
CFTR
0.710 GeneticVariation BEFREE However, mutations that disrupt the interaction of ATP with ATP-binding site 1, including K464A, D572N and the CF-associated mutation G1349D all abolished the prolongation of τ<sub>cf</sub> at pH<sub>i</sub> 6.3. 27779763

2017