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rs121909012

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121909012(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594990
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909012
ebirs121909012
HLIrs121909012
Exacrs121909012
Varsomers121909012
Maprs121909012
PheGenIrs121909012
hapmaprs121909012
1000 genomesrs121909012
hgdprs121909012
ensemblrs121909012
gopubmedrs121909012
geneviewrs121909012
scholarrs121909012
googlers121909012
pharmgkbrs121909012
gwascentralrs121909012
openSNPrs121909012
23andMers121909012
23andMe allrs121909012
SNP Nexus

SNPshotrs121909012
SNPdbers121909012
MSV3drs121909012
GWAS Ctlgrs121909012
Max Magnitude3

Cystic fibrosis; c.2551C>T, p.Arg851Ter

named i5011584 and i5006071 by 23andMe

OMIM602421
Desc
Variant0036
Relatedalso
ClinVar
Risk rs121909012(T;T)
Alt rs121909012(T;T)
Reference rs121909012(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235044C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007561.6,