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rs80282562

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs80282562(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117534318
GeneCFTR
is asnp
is mentioned by
dbSNPrs80282562
ebirs80282562
HLIrs80282562
Exacrs80282562
Varsomers80282562
Maprs80282562
PheGenIrs80282562
hapmaprs80282562
1000 genomesrs80282562
hgdprs80282562
ensemblrs80282562
gopubmedrs80282562
geneviewrs80282562
scholarrs80282562
googlers80282562
pharmgkbrs80282562
gwascentralrs80282562
openSNPrs80282562
23andMers80282562
23andMe allrs80282562
SNP Nexus

SNPshotrs80282562
SNPdbers80282562
MSV3drs80282562
GWAS Ctlgrs80282562
Max Magnitude3
ClinVar
Risk rs80282562(T;T)
Alt rs80282562(T;T)
Reference rs80282562(C;C)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy
Reversed 1
HGVS NC_000007.13:g.117174372G>A
CLNSRC CFTR2 PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000056394.3, RCV000211246.1,