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rs121908746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 cystic fibrosis carrier
(A;A) 0 common in clinvar
(CA;CA) 0 common in clinvar


Make rs121908746(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592219
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908746
ebirs121908746
HLIrs121908746
Exacrs121908746
Varsomers121908746
Maprs121908746
PheGenIrs121908746
hapmaprs121908746
1000 genomesrs121908746
hgdprs121908746
ensemblrs121908746
gopubmedrs121908746
geneviewrs121908746
scholarrs121908746
googlers121908746
pharmgkbrs121908746
gwascentralrs121908746
openSNPrs121908746
23andMers121908746
23andMe allrs121908746
SNP Nexus

SNPshotrs121908746
SNPdbers121908746
MSV3drs121908746
GWAS Ctlgrs121908746
Max Magnitude3
ClinVar
Risk rs121908746(C,CAA;C,CAA)
Alt rs121908746(C,CAA;C,CAA)
Reference rs121908746(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232273delA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000043563.4,



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


[PMID 15371902OA-icon.png] Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.


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