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rs121908763

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a cystic fibrosis allele
Make rs121908763(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627640
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908763
ebirs121908763
HLIrs121908763
Exacrs121908763
Varsomers121908763
Maprs121908763
PheGenIrs121908763
hapmaprs121908763
1000 genomesrs121908763
hgdprs121908763
ensemblrs121908763
gopubmedrs121908763
geneviewrs121908763
scholarrs121908763
googlers121908763
pharmgkbrs121908763
gwascentralrs121908763
openSNPrs121908763
23andMers121908763
23andMe allrs121908763
SNP Nexus

SNPshotrs121908763
SNPdbers121908763
MSV3drs121908763
GWAS Ctlgrs121908763
Max Magnitude3

Cystic fibrosis; c.3587C>G, p.Ser1196Ter

named i5011952 by 23andMe

ClinVar
Risk rs121908763(G;G)
Alt rs121908763(G;G)
Reference Rs121908763(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267694C>G
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000056383.3,



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


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.