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rs397508211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 3 carrier of a cystic fibrosis allele
(C;C) 0 common in clinvar


Make rs397508211(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559537
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508211
ebirs397508211
HLIrs397508211
Exacrs397508211
Varsomers397508211
Maprs397508211
PheGenIrs397508211
hapmaprs397508211
1000 genomesrs397508211
hgdprs397508211
ensemblrs397508211
gopubmedrs397508211
geneviewrs397508211
scholarrs397508211
googlers397508211
pharmgkbrs397508211
gwascentralrs397508211
openSNPrs397508211
23andMers397508211
23andMe allrs397508211
SNP Nexus

SNPshotrs397508211
SNPdbers397508211
MSV3drs397508211
GWAS Ctlgrs397508211
Max Magnitude3

Cystic fibrosis; c.1466C>A, p.Ser489Ter

named i5011243 by 23andMe

ClinVar
Risk rs397508211(A,T;A,T)
Alt rs397508211(A,T;A,T)
Reference rs397508211(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199591C>A
CLNSRC CFTR2
CLNACC RCV000056349.3,