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rs121909045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs121909045(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480113
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909045
ebirs121909045
HLIrs121909045
Exacrs121909045
Varsomers121909045
Maprs121909045
PheGenIrs121909045
hapmaprs121909045
1000 genomesrs121909045
hgdprs121909045
ensemblrs121909045
gopubmedrs121909045
geneviewrs121909045
scholarrs121909045
googlers121909045
pharmgkbrs121909045
gwascentralrs121909045
openSNPrs121909045
23andMers121909045
23andMe allrs121909045
SNP Nexus

SNPshotrs121909045
SNPdbers121909045
MSV3drs121909045
GWAS Ctlgrs121909045
Max Magnitude3
OMIM602421
Desc
Variant0131
Relatedalso
ClinVar
Risk rs121909045(C,T;C,T)
Alt rs121909045(C,T;C,T)
Reference rs121909045(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120167G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007657.3,