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rs121908791

From SNPedia

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


Make rs121908791(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509143
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908791
ebirs121908791
HLIrs121908791
Exacrs121908791
Varsomers121908791
Maprs121908791
PheGenIrs121908791
hapmaprs121908791
1000 genomesrs121908791
hgdprs121908791
ensemblrs121908791
gopubmedrs121908791
geneviewrs121908791
scholarrs121908791
googlers121908791
pharmgkbrs121908791
gwascentralrs121908791
openSNPrs121908791
23andMers121908791
23andMe allrs121908791
SNP Nexus

SNPshotrs121908791
SNPdbers121908791
MSV3drs121908791
GWAS Ctlgrs121908791
Max Magnitude3

Cystic fibrosis; c.273+1G>A

named i5010781 by 23andMe

ClinVar
Risk rs121908791(A;A)
Alt rs121908791(A;A)
Reference rs121908791(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117149197G>A
CLNSRC CFTR2
CLNACC RCV000056369.3, RCV000224473.1,



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


[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.