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rs121908794

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs121908794(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590352
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908794
ebirs121908794
HLIrs121908794
Exacrs121908794
Varsomers121908794
Maprs121908794
PheGenIrs121908794
hapmaprs121908794
1000 genomesrs121908794
hgdprs121908794
ensemblrs121908794
gopubmedrs121908794
geneviewrs121908794
scholarrs121908794
googlers121908794
pharmgkbrs121908794
gwascentralrs121908794
openSNPrs121908794
23andMers121908794
23andMe allrs121908794
SNP Nexus

SNPshotrs121908794
SNPdbers121908794
MSV3drs121908794
GWAS Ctlgrs121908794
Max Magnitude3

Cystic fibrosis; c.1680-1G>A

named i5011361 by 23andMe


ClinVar
Risk rs121908794(A;A)
Alt rs121908794(A;A)
Reference rs121908794(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230406G>A
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000056352.3,



[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.