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rs121909006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs121909006(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590360
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909006
ebirs121909006
HLIrs121909006
Exacrs121909006
Varsomers121909006
Maprs121909006
PheGenIrs121909006
hapmaprs121909006
1000 genomesrs121909006
hgdprs121909006
ensemblrs121909006
gopubmedrs121909006
geneviewrs121909006
scholarrs121909006
googlers121909006
pharmgkbrs121909006
gwascentralrs121909006
openSNPrs121909006
23andMers121909006
23andMe allrs121909006
SNP Nexus

SNPshotrs121909006
SNPdbers121909006
MSV3drs121909006
GWAS Ctlgrs121909006
Max Magnitude3
OMIM602421
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121909006(A,G;A,G)
Alt rs121909006(A,G;A,G)
Reference rs121909006(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117230414T>A; NC_000007.13:g.117230414T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007534.4, RCV000046423.2,