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rs397508537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 cystic fibrosis carrier (most likely)
(C;C) 0 common/normal


Make rs397508537(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome7
Position117530955
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508537
dbSNP (classic)rs397508537
ClinGenrs397508537
ebirs397508537
HLIrs397508537
Exacrs397508537
Gnomadrs397508537
Varsomers397508537
LitVarrs397508537
Maprs397508537
PheGenIrs397508537
Biobankrs397508537
1000 genomesrs397508537
hgdprs397508537
ensemblrs397508537
geneviewrs397508537
scholarrs397508537
googlers397508537
pharmgkbrs397508537
gwascentralrs397508537
openSNPrs397508537
23andMers397508537
23andMe allrs397508537
SNPshotrs397508537
SNPdbers397508537
MSV3drs397508537
GWAS Ctlgrs397508537
Max Magnitude3

aka c.330C>A, p.Asp110Glu and D110E

In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 19.9% of wild-type CFTR activity.[PMID 29805046OA-icon.png]