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rs79660178

From SNPedia

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


Make rs79660178(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530991
GeneCFTR
is asnp
is mentioned by
dbSNPrs79660178
ebirs79660178
HLIrs79660178
Exacrs79660178
Varsomers79660178
Maprs79660178
PheGenIrs79660178
hapmaprs79660178
1000 genomesrs79660178
hgdprs79660178
ensemblrs79660178
gopubmedrs79660178
geneviewrs79660178
scholarrs79660178
googlers79660178
pharmgkbrs79660178
gwascentralrs79660178
openSNPrs79660178
23andMers79660178
23andMe allrs79660178
SNP Nexus

SNPshotrs79660178
SNPdbers79660178
MSV3drs79660178
GWAS Ctlgrs79660178
Max Magnitude3

Cystic fibrosis; c.366T>A, Tyr122Ter or Y122X

named i5010848 by 23andMe

ClinVar
Risk rs79660178(A;A)
Alt rs79660178(A;A)
Reference rs79660178(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117171045T>A
CLNSRC CFTR2
CLNACC RCV000056385.3,



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