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rs397508761(A;C)

From SNPedia
possible cystic fibrosis carrier
Is agenotype
ofrs397508761
GeneCFTR
Chromosome7
Position117,534,368
mentionedby
Magnitude3.1
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.1 possible cystic fibrosis carrier
(A;G) 3 carrier of a cystic fibrosis allele

While the A>G mutation of this SNP is considered pathogenic, the A>C change represented by this SNP has not been reported, so it is not known for sure if it is a cystic fibrosis allele.