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rs121908757

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 carrier of a cystic fibrosis allele
Make rs121908757(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587799
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908757
ebirs121908757
HLIrs121908757
Exacrs121908757
Varsomers121908757
Maprs121908757
PheGenIrs121908757
hapmaprs121908757
1000 genomesrs121908757
hgdprs121908757
ensemblrs121908757
gopubmedrs121908757
geneviewrs121908757
scholarrs121908757
googlers121908757
pharmgkbrs121908757
gwascentralrs121908757
openSNPrs121908757
23andMers121908757
23andMe allrs121908757
SNP Nexus

SNPshotrs121908757
SNPdbers121908757
MSV3drs121908757
GWAS Ctlgrs121908757
Max Magnitude3

Cystic fibrosis; c.1645A>C, p.Ser549Arg

named i5006053 and i5011321 by 23andMe

OMIM602421
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908757(C;C)
Alt rs121908757(C;C)
Reference rs121908757(A;A)
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.117227853A>C
CLNSRC CFTR2 Cystic Fibrosis Mutation Database PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007538.3, RCV000043664.4, RCV000211346.1,



[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.