rs80224560

Cystic Fibrosis related

plus

Geno	Mag	Summary
(A;A)	5	Cystic Fibrosis; possibly a mild form (see discussion)
(A;G)	3	Cystic Fibrosis carrier
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

117602868

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs80224560
dbSNP (classic)	rs80224560
ClinGen	rs80224560
ebi	rs80224560
HLI	rs80224560
Exac	rs80224560
Gnomad	rs80224560
Varsome	rs80224560
LitVar	rs80224560
Map	rs80224560
PheGenI	rs80224560
Biobank	rs80224560
1000 genomes	rs80224560
hgdp	rs80224560
ensembl	rs80224560
geneview	rs80224560
scholar	rs80224560
google	rs80224560
pharmgkb	rs80224560
gwascentral	rs80224560
openSNP	rs80224560
23andMe	rs80224560
SNPshot	rs80224560
SNPdbe	rs80224560
MSV3d	rs80224560
GWAS Ctlg	rs80224560

Max Magnitude

5

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 Hereditary pancreatitis not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis not provided
Reversed	0
HGVS	NC_000007.13:g.117242922G>A
CLNSRC	CFTR2
CLNACC	RCV000043564.5, RCV000366376.1, RCV000487256.1,

[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 15371902 ] 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.