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rs397508394

From SNPedia

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


Make rs397508394(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594986
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508394
ebirs397508394
HLIrs397508394
Exacrs397508394
Varsomers397508394
Maprs397508394
PheGenIrs397508394
hapmaprs397508394
1000 genomesrs397508394
hgdprs397508394
ensemblrs397508394
gopubmedrs397508394
geneviewrs397508394
scholarrs397508394
googlers397508394
pharmgkbrs397508394
gwascentralrs397508394
openSNPrs397508394
23andMers397508394
23andMe allrs397508394
SNP Nexus

SNPshotrs397508394
SNPdbers397508394
MSV3drs397508394
GWAS Ctlgrs397508394
Max Magnitude3

Cystic fibrosis; c.2547C>A, p.Tyr849Ter

named i5011583 by 23andMe

ClinVar
Risk rs397508394(A;A)
Alt rs397508394(A;A)
Reference rs397508394(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235040C>A
CLNSRC CFTR2
CLNACC RCV000046615.3,