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rs121909017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121909017(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559546
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909017
ebirs121909017
HLIrs121909017
Exacrs121909017
Varsomers121909017
Maprs121909017
PheGenIrs121909017
hapmaprs121909017
1000 genomesrs121909017
hgdprs121909017
ensemblrs121909017
gopubmedrs121909017
geneviewrs121909017
scholarrs121909017
googlers121909017
pharmgkbrs121909017
gwascentralrs121909017
openSNPrs121909017
23andMers121909017
23andMe allrs121909017
SNP Nexus

SNPshotrs121909017
SNPdbers121909017
MSV3drs121909017
GWAS Ctlgrs121909017
Max Magnitude3

Cystic fibrosis; c.1475C>T, p.Ser492Phe

named i5006080 by 23andMe

OMIM602421
Desc
Variant0051
Relatedalso
ClinVar
Risk rs121909017(T;T)
Alt rs121909017(T;T)
Reference rs121909017(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199600C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007575.5,