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rs139468767

From SNPedia

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


Make rs139468767(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592020
GeneCFTR
is asnp
is mentioned by
dbSNPrs139468767
ebirs139468767
HLIrs139468767
Exacrs139468767
Varsomers139468767
Maprs139468767
PheGenIrs139468767
hapmaprs139468767
1000 genomesrs139468767
hgdprs139468767
ensemblrs139468767
gopubmedrs139468767
geneviewrs139468767
scholarrs139468767
googlers139468767
pharmgkbrs139468767
gwascentralrs139468767
openSNPrs139468767
23andMers139468767
23andMe allrs139468767
SNP Nexus

SNPshotrs139468767
SNPdbers139468767
MSV3drs139468767
GWAS Ctlgrs139468767
Max Magnitude3
ClinVar
Risk rs139468767(C;C)
Alt rs139468767(C;C)
Reference rs139468767(T;T)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117232074T>C
CLNSRC HGMD
CLNACC RCV000046494.3, RCV000078982.3,