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rs121908766

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs121908766(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627765
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908766
ebirs121908766
HLIrs121908766
Exacrs121908766
Varsomers121908766
Maprs121908766
PheGenIrs121908766
hapmaprs121908766
1000 genomesrs121908766
hgdprs121908766
ensemblrs121908766
gopubmedrs121908766
geneviewrs121908766
scholarrs121908766
googlers121908766
pharmgkbrs121908766
gwascentralrs121908766
openSNPrs121908766
23andMers121908766
23andMe allrs121908766
SNP Nexus

SNPshotrs121908766
SNPdbers121908766
MSV3drs121908766
GWAS Ctlgrs121908766
Merged fromRs121909024
Max Magnitude3
OMIM602421
Desc
Variant0072
Relatedalso
ClinVar
Risk rs121908766(A,T;A,T)
Alt rs121908766(A,T;A,T)
Reference rs121908766(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267819C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007596.3,