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rs397508393

From SNPedia

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


Make rs397508393(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594976
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508393
ebirs397508393
HLIrs397508393
Exacrs397508393
Varsomers397508393
Maprs397508393
PheGenIrs397508393
hapmaprs397508393
1000 genomesrs397508393
hgdprs397508393
ensemblrs397508393
gopubmedrs397508393
geneviewrs397508393
scholarrs397508393
googlers397508393
pharmgkbrs397508393
gwascentralrs397508393
openSNPrs397508393
23andMers397508393
23andMe allrs397508393
SNP Nexus

SNPshotrs397508393
SNPdbers397508393
MSV3drs397508393
GWAS Ctlgrs397508393
Max Magnitude3

Cystic fibrosis; c.2537G>A, p.Trp846Ter

named i5006063 and i5011581 by 23andMe

ClinVar
Risk rs397508393(A;A)
Alt rs397508393(A;A)
Reference rs397508393(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235030G>A
CLNSRC CFTR2
CLNACC RCV000056367.3,