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rs121909023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 cystic fibrosis carrier
Make rs121909023(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592313
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909023
ebirs121909023
HLIrs121909023
Exacrs121909023
Varsomers121909023
Maprs121909023
PheGenIrs121909023
hapmaprs121909023
1000 genomesrs121909023
hgdprs121909023
ensemblrs121909023
gopubmedrs121909023
geneviewrs121909023
scholarrs121909023
googlers121909023
pharmgkbrs121909023
gwascentralrs121909023
openSNPrs121909023
23andMers121909023
23andMe allrs121909023
SNP Nexus

SNPshotrs121909023
SNPdbers121909023
MSV3drs121909023
GWAS Ctlgrs121909023
Max Magnitude3
OMIM602421
Desc
Variant0070
Relatedalso
ClinVar
Risk rs121909023(T;T)
Alt rs121909023(T;T)
Reference rs121909023(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232367A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007594.2,