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rs79031340

From SNPedia

Cystic Fibrosis related
Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs79031340(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117540218
GeneCFTR
is asnp
is mentioned by
dbSNPrs79031340
ebirs79031340
HLIrs79031340
Exacrs79031340
Varsomers79031340
Maprs79031340
PheGenIrs79031340
hapmaprs79031340
1000 genomesrs79031340
hgdprs79031340
ensemblrs79031340
gopubmedrs79031340
geneviewrs79031340
scholarrs79031340
googlers79031340
pharmgkbrs79031340
gwascentralrs79031340
openSNPrs79031340
23andMers79031340
23andMe allrs79031340
SNP Nexus

SNPshotrs79031340
SNPdbers79031340
MSV3drs79031340
GWAS Ctlgrs79031340
Max Magnitude3

Cystic fibrosis; c.988G>T, Gly330Ter or G330X

named i5011073 and i5053826 by 23andMe

ClinVar
Risk rs79031340(T;T)
Alt rs79031340(T;T)
Reference rs79031340(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180272G>T
CLNSRC CFTR2
CLNACC RCV000056402.3,



[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.


[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.