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rs397508296

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs397508296(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590426
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508296
ClinGenrs397508296
ebirs397508296
HLIrs397508296
Exacrs397508296
Varsomers397508296
Maprs397508296
PheGenIrs397508296
hapmaprs397508296
1000 genomesrs397508296
hgdprs397508296
ensemblrs397508296
gopubmedrs397508296
geneviewrs397508296
scholarrs397508296
googlers397508296
pharmgkbrs397508296
gwascentralrs397508296
openSNPrs397508296
23andMers397508296
23andMe allrs397508296
SNP Nexus

SNPshotrs397508296
SNPdbers397508296
MSV3drs397508296
GWAS Ctlgrs397508296
Max Magnitude3

Cystic fibrosis; c.1753G>T, p.Glu585Ter

named i5011404 by 23andMe

ClinVar
Risk rs397508296(T;T)
Alt rs397508296(T;T)
Reference Rs397508296(G;G)
Significance Pathogenic
Disease Cystic fibrosis Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117230480G>T
CLNSRC CFTR2
CLNACC RCV000056353.5, RCV000370738.1,