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rs121909041

From SNPedia

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


Make rs121909041(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642483
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909041
ebirs121909041
HLIrs121909041
Exacrs121909041
Varsomers121909041
Maprs121909041
PheGenIrs121909041
hapmaprs121909041
1000 genomesrs121909041
hgdprs121909041
ensemblrs121909041
gopubmedrs121909041
geneviewrs121909041
scholarrs121909041
googlers121909041
pharmgkbrs121909041
gwascentralrs121909041
openSNPrs121909041
23andMers121909041
23andMe allrs121909041
SNP Nexus

SNPshotrs121909041
SNPdbers121909041
MSV3drs121909041
GWAS Ctlgrs121909041
Max Magnitude3

Cystic fibrosis; c.3763T>C, p.Ser1255Pro

named i5006124 by 23andMe

OMIM602421
Desc
Variant0113
Relatedalso
ClinVar
Risk rs121909041(C;C)
Alt rs121909041(C;C)
Reference rs121909041(T;T)
Significance Drug-response
Disease Cystic fibrosis Ivacaftor response
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Ivacaftor response
Reversed 0
HGVS NC_000007.13:g.117282537T>C
CLNSRC CFTR2 OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007613.3, RCV000211376.1,