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rs397508600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 cystic fibrosis carrier (most likely)
Make rs397508600(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome7
Position117642457
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508600
dbSNP (classic)rs397508600
ClinGenrs397508600
ebirs397508600
HLIrs397508600
Exacrs397508600
Gnomadrs397508600
Varsomers397508600
LitVarrs397508600
Maprs397508600
PheGenIrs397508600
Biobankrs397508600
1000 genomesrs397508600
hgdprs397508600
ensemblrs397508600
geneviewrs397508600
scholarrs397508600
googlers397508600
pharmgkbrs397508600
gwascentralrs397508600
openSNPrs397508600
23andMers397508600
23andMe allrs397508600
SNPshotrs397508600
SNPdbers397508600
MSV3drs397508600
GWAS Ctlgrs397508600
Max Magnitude3

aka c.3737C>T, p.Thr1246Ile or T1246I

In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 12.9% of wild-type CFTR activity.[PMID 29805046OA-icon.png]