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rs397508378

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs397508378(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592631
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508378
ebirs397508378
HLIrs397508378
Exacrs397508378
Varsomers397508378
Maprs397508378
PheGenIrs397508378
hapmaprs397508378
1000 genomesrs397508378
hgdprs397508378
ensemblrs397508378
gopubmedrs397508378
geneviewrs397508378
scholarrs397508378
googlers397508378
pharmgkbrs397508378
gwascentralrs397508378
openSNPrs397508378
23andMers397508378
23andMe allrs397508378
SNP Nexus

SNPshotrs397508378
SNPdbers397508378
MSV3drs397508378
GWAS Ctlgrs397508378
Max Magnitude3

Cystic fibrosis; c.2464G>T, p.Glu822Ter

named i5011558 by 23andMe

ClinVar
Risk rs397508378(A,T;A,T)
Alt rs397508378(A,T;A,T)
Reference rs397508378(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232685G>A; NC_000007.13:g.117232685G>T
CLNSRC CFTR2
CLNACC RCV000046594.2, RCV000056365.3,