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rs121909034

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121909034(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603609
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909034
ebirs121909034
HLIrs121909034
Exacrs121909034
Varsomers121909034
Maprs121909034
PheGenIrs121909034
hapmaprs121909034
1000 genomesrs121909034
hgdprs121909034
ensemblrs121909034
gopubmedrs121909034
geneviewrs121909034
scholarrs121909034
googlers121909034
pharmgkbrs121909034
gwascentralrs121909034
openSNPrs121909034
23andMers121909034
23andMe allrs121909034
SNP Nexus

SNPshotrs121909034
SNPdbers121909034
MSV3drs121909034
GWAS Ctlgrs121909034
GMAF0.0
Max Magnitude3

Cystic fibrosis; c.2735C>T, p.Ser912Leu as well as c.2735C>A, p.Ser912Ter

named i5011643, i5011644 and i5006133 by 23andMe

OMIM602421
Desc
Variant0100
Relatedalso
ClinVar
Risk rs121909034(A,T;A,T)
Alt rs121909034(A,T;A,T)
Reference rs121909034(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243663C>A; NC_000007.13:g.117243663C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000046665.3, RCV000007626.4, RCV000007661.2,