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rs121909026

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121909026(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652905
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909026
ebirs121909026
HLIrs121909026
Exacrs121909026
Varsomers121909026
Maprs121909026
PheGenIrs121909026
hapmaprs121909026
1000 genomesrs121909026
hgdprs121909026
ensemblrs121909026
gopubmedrs121909026
geneviewrs121909026
scholarrs121909026
googlers121909026
pharmgkbrs121909026
gwascentralrs121909026
openSNPrs121909026
23andMers121909026
23andMe allrs121909026
SNP Nexus

SNPshotrs121909026
SNPdbers121909026
MSV3drs121909026
GWAS Ctlgrs121909026
Max Magnitude3

Cystic fibrosis; c.3937C>T, p.Gln1313Ter

named i5012092 and i5006095 by 23andMe

OMIM602421
Desc
Variant0076
Relatedalso
ClinVar
Risk rs121909026(A,T;A,T)
Alt rs121909026(A,T;A,T)
Reference rs121909026(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292959C>A; NC_000007.13:g.117292959C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000047038.2, RCV000007600.6,