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rs121908760

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121908760(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592292
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908760
ebirs121908760
HLIrs121908760
Exacrs121908760
Varsomers121908760
Maprs121908760
PheGenIrs121908760
hapmaprs121908760
1000 genomesrs121908760
hgdprs121908760
ensemblrs121908760
gopubmedrs121908760
geneviewrs121908760
scholarrs121908760
googlers121908760
pharmgkbrs121908760
gwascentralrs121908760
openSNPrs121908760
23andMers121908760
23andMe allrs121908760
SNP Nexus

SNPshotrs121908760
SNPdbers121908760
MSV3drs121908760
GWAS Ctlgrs121908760
Max Magnitude3

Cystic fibrosis; c.2125C>T, p.Arg709Ter

named i5011500 by 23andMe

ClinVar
Risk rs121908760(T;T)
Alt rs121908760(T;T)
Reference rs121908760(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232346C>T
CLNSRC CFTR2
CLNACC RCV000056359.3,



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