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rs121908749

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs121908749(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509092
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908749
ebirs121908749
HLIrs121908749
Exacrs121908749
Varsomers121908749
Maprs121908749
PheGenIrs121908749
hapmaprs121908749
1000 genomesrs121908749
hgdprs121908749
ensemblrs121908749
gopubmedrs121908749
geneviewrs121908749
scholarrs121908749
googlers121908749
pharmgkbrs121908749
gwascentralrs121908749
openSNPrs121908749
23andMers121908749
23andMe allrs121908749
SNP Nexus

SNPshotrs121908749
SNPdbers121908749
MSV3drs121908749
GWAS Ctlgrs121908749
Max Magnitude3

Cystic fibrosis; c.223C>T, Arg75Ter or R75X

named i5010753 by 23andMe

ClinVar
Risk rs121908749(T;T)
Alt rs121908749(T;T)
Reference rs121908749(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149146C>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000056362.3,



[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.