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rs148519623

From SNPedia

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


Make rs148519623(G;G)
ReferenceGRCh38.p7 38.3/151
Chromosome7
Position117536598
GeneCFTR
is asnp
is mentioned by
dbSNPrs148519623
dbSNP (classic)rs148519623
ClinGenrs148519623
ebirs148519623
HLIrs148519623
Exacrs148519623
Gnomadrs148519623
Varsomers148519623
LitVarrs148519623
Maprs148519623
PheGenIrs148519623
Biobankrs148519623
1000 genomesrs148519623
hgdprs148519623
ensemblrs148519623
geneviewrs148519623
scholarrs148519623
googlers148519623
pharmgkbrs148519623
gwascentralrs148519623
openSNPrs148519623
23andMers148519623
23andMe allrs148519623
SNPshotrs148519623
SNPdbers148519623
MSV3drs148519623
GWAS Ctlgrs148519623
Max Magnitude3

aka c.794T>G, p.Met265Arg and M265R

In the CFTR2 database, the minor allele is considered to be of varying clinical consequence. In a functional study, it shows 19.1% of wild-type CFTR activity.[PMID 29805046OA-icon.png]