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rs77188391

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Cystic Fibrosis carrier
Make rs77188391(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117534366
GeneCFTR
is asnp
is mentioned by
dbSNPrs77188391
ebirs77188391
HLIrs77188391
Exacrs77188391
Varsomers77188391
Maprs77188391
PheGenIrs77188391
hapmaprs77188391
1000 genomesrs77188391
hgdprs77188391
ensemblrs77188391
gopubmedrs77188391
geneviewrs77188391
scholarrs77188391
googlers77188391
pharmgkbrs77188391
gwascentralrs77188391
openSNPrs77188391
23andMers77188391
23andMe allrs77188391
SNP Nexus

SNPshotrs77188391
SNPdbers77188391
MSV3drs77188391
GWAS Ctlgrs77188391
Max Magnitude3

Cystic fibrosis; c.579+1G>T

named i4000315 and i5010951 by 23andMe


ClinVar
Risk rs77188391(T;T)
Alt rs77188391(T;T)
Reference rs77188391(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117174420G>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000043566.4,


[PMID 7689008] Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.


[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.