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rs121909043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 cystic fibrosis carrier
Make rs121909043(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117667029
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909043
ebirs121909043
HLIrs121909043
Exacrs121909043
Varsomers121909043
Maprs121909043
PheGenIrs121909043
hapmaprs121909043
1000 genomesrs121909043
hgdprs121909043
ensemblrs121909043
gopubmedrs121909043
geneviewrs121909043
scholarrs121909043
googlers121909043
pharmgkbrs121909043
gwascentralrs121909043
openSNPrs121909043
23andMers121909043
23andMe allrs121909043
SNP Nexus

SNPshotrs121909043
SNPdbers121909043
MSV3drs121909043
GWAS Ctlgrs121909043
Max Magnitude3
OMIM602421
Desc
Variant0119
Relatedalso
ClinVar
Risk rs121909043(G;G)
Alt rs121909043(G;G)
Reference rs121909043(C;C)
Significance Pathogenic
Disease Sweat chloride elevation without cystic fibrosis Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Sweat chloride elevation without cystic fibrosis Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117307083C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007644.2, RCV000047130.2,