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rs121909005

From SNPedia

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


Make rs121909005(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587801
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909005
ebirs121909005
HLIrs121909005
Exacrs121909005
Varsomers121909005
Maprs121909005
PheGenIrs121909005
hapmaprs121909005
1000 genomesrs121909005
hgdprs121909005
ensemblrs121909005
gopubmedrs121909005
geneviewrs121909005
scholarrs121909005
googlers121909005
pharmgkbrs121909005
gwascentralrs121909005
openSNPrs121909005
23andMers121909005
23andMe allrs121909005
SNP Nexus

SNPshotrs121909005
SNPdbers121909005
MSV3drs121909005
GWAS Ctlgrs121909005
Max Magnitude3

Cystic fibrosis; c.1647T>G, p.Ser549Arg

named i5011325 and i4000302 by 23andMe

OMIM602421
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909005(G;G)
Alt rs121909005(G;G)
Reference rs121909005(T;T)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy
Reversed 0
HGVS NC_000007.13:g.117227855T>G
CLNSRC CFTR2 OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007538.3, RCV000056350.3, RCV000211129.1,