Have questions? Visit https://www.reddit.com/r/SNPedia

rs77834169(C;T)

From SNPedia

carrier of a cystic fibrosis allele
Is agenotype
ofrs77834169
GeneCFTR
Chromosome7
Position117,530,974
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele

Cystic fibrosis mutation carrier; unaffected unless CF mutation present on other copy of CF gene

This cystic fibrosis variant, known as R117S, is reported as likely to be a pathogenic change in ClinVar.