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rs121908755

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar
(G;T) 3 Cystic Fibrosis carrier
Make rs121908755(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587800
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908755
ebirs121908755
HLIrs121908755
Exacrs121908755
Varsomers121908755
Maprs121908755
PheGenIrs121908755
hapmaprs121908755
1000 genomesrs121908755
hgdprs121908755
ensemblrs121908755
gopubmedrs121908755
geneviewrs121908755
scholarrs121908755
googlers121908755
pharmgkbrs121908755
gwascentralrs121908755
openSNPrs121908755
23andMers121908755
23andMe allrs121908755
SNP Nexus

SNPshotrs121908755
SNPdbers121908755
MSV3drs121908755
GWAS Ctlgrs121908755
Merged fromRs121909003, Rs121909004
Max Magnitude3

Cystic fibrosis; c.1646G>A, p.Ser549Asn as well as c.1646G>T, p.Ser549Ile

named i4000301, i5011323 and i5011324 by 23andMe

OMIM602421
Desc
Variant0011
Relatedalso
OMIM602421
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908755(A,T;A,T)
Alt rs121908755(A,T;A,T)
Reference rs121908755(G;G)
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.117227854G>A; NC_000007.13:g.117227854G>T
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000007536.6, RCV000211264.1, RCV000007537.4,