Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231142
rs2231142
ABCG2
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 GeneticVariation BEFREE In the present work we examined the stability and cellular processing of the Q141K ABCG2 variant, as well as that of the ΔF142 ABCG2, corresponding to the ΔF508 mutation in the CFTR (ABCC7) protein, causing cystic fibrosis. 23800412

2013