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rs397508399

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs397508399(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117595022
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508399
ebirs397508399
HLIrs397508399
Exacrs397508399
Varsomers397508399
Maprs397508399
PheGenIrs397508399
hapmaprs397508399
1000 genomesrs397508399
hgdprs397508399
ensemblrs397508399
gopubmedrs397508399
geneviewrs397508399
scholarrs397508399
googlers397508399
pharmgkbrs397508399
gwascentralrs397508399
openSNPrs397508399
23andMers397508399
23andMe allrs397508399
SNP Nexus

SNPshotrs397508399
SNPdbers397508399
MSV3drs397508399
GWAS Ctlgrs397508399
Max Magnitude3

Cystic fibrosis; c.2583delT, p.Phe861Leufs

named i5011594 by 23andMe

ClinVar
Risk rs397508399(;)
Alt rs397508399(;)
Reference rs397508399(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235076delT
CLNSRC CFTR2
CLNACC RCV000056368.3,