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rs121909013

From SNPedia

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


Make rs121909013(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587805
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909013
ebirs121909013
HLIrs121909013
Exacrs121909013
Varsomers121909013
Maprs121909013
PheGenIrs121909013
hapmaprs121909013
1000 genomesrs121909013
hgdprs121909013
ensemblrs121909013
gopubmedrs121909013
geneviewrs121909013
scholarrs121909013
googlers121909013
pharmgkbrs121909013
gwascentralrs121909013
openSNPrs121909013
23andMers121909013
23andMe allrs121909013
SNP Nexus

SNPshotrs121909013
SNPdbers121909013
MSV3drs121909013
GWAS Ctlgrs121909013
Max Magnitude3

Cystic fibrosis; c.1651G>A, p.Gly551Ser

named i5006072 and i5011329 by 23andMe

OMIM602421
Desc
Variant0037
Relatedalso
ClinVar
Risk rs121909013(A;A)
Alt rs121909013(A;A)
Reference rs121909013(G;G)
Significance Drug-response
Disease Cystic fibrosis ivacaftor response - Efficacy not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis ivacaftor response - Efficacy not provided
Reversed 0
HGVS NC_000007.13:g.117227859G>A
CLNSRC CFTR2 OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007562.3, RCV000211256.1, RCV000224595.1,