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rs397508567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 3 carrier of a cystic fibrosis allele
(T;T) 0 common/normal


Make rs397508567(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome7
Position117614703
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508567
dbSNP (classic)rs397508567
ClinGenrs397508567
ebirs397508567
HLIrs397508567
Exacrs397508567
Gnomadrs397508567
Varsomers397508567
LitVarrs397508567
Maprs397508567
PheGenIrs397508567
Biobankrs397508567
1000 genomesrs397508567
hgdprs397508567
ensemblrs397508567
geneviewrs397508567
scholarrs397508567
googlers397508567
pharmgkbrs397508567
gwascentralrs397508567
openSNPrs397508567
23andMers397508567
23andMe allrs397508567
SNPshotrs397508567
SNPdbers397508567
MSV3drs397508567
GWAS Ctlgrs397508567
Max Magnitude3

aka c.3458T>A, p.Val1153Glu or V1153E

In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 18.7% of wild-type CFTR activity.[PMID 29805046OA-icon.png]