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rs80224560

From SNPedia

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


Make rs80224560(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117602868
GeneCFTR
is asnp
is mentioned by
dbSNPrs80224560
ebirs80224560
HLIrs80224560
Exacrs80224560
Varsomers80224560
Maprs80224560
PheGenIrs80224560
hapmaprs80224560
1000 genomesrs80224560
hgdprs80224560
ensemblrs80224560
gopubmedrs80224560
geneviewrs80224560
scholarrs80224560
googlers80224560
pharmgkbrs80224560
gwascentralrs80224560
openSNPrs80224560
23andMers80224560
23andMe allrs80224560
SNP Nexus

SNPshotrs80224560
SNPdbers80224560
MSV3drs80224560
GWAS Ctlgrs80224560
Max Magnitude3

rs80224560, probably best known as 2789+5G>A, is a mutation in the cystic fibrosis CFTR gene. It has been reported as leading to a relatively mild form of cystic fibrosis; see the discussion at I4000320.

also named i5011620 by 23andMe

ClinVar
Risk rs80224560(A;A)
Alt rs80224560(A;A)
Reference rs80224560(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117242922G>A
CLNSRC CFTR2
CLNACC RCV000043564.5,


[PMID 1867511] [Renal abscess. Medical treatment].


[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.