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rs397508453

From SNPedia

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


Make rs397508453(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603782
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508453
ebirs397508453
HLIrs397508453
Exacrs397508453
Varsomers397508453
Maprs397508453
PheGenIrs397508453
hapmaprs397508453
1000 genomesrs397508453
hgdprs397508453
ensemblrs397508453
gopubmedrs397508453
geneviewrs397508453
scholarrs397508453
googlers397508453
pharmgkbrs397508453
gwascentralrs397508453
openSNPrs397508453
23andMers397508453
23andMe allrs397508453
SNP Nexus

SNPshotrs397508453
SNPdbers397508453
MSV3drs397508453
GWAS Ctlgrs397508453
Max Magnitude3

Cystic fibrosis; c.2908G>C, p.Gly970Arg

named i5011692 by 23andMe

ClinVar
Risk rs397508453(A,C;A,C)
Alt rs397508453(A,C;A,C)
Reference rs397508453(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243836G>A; NC_000007.13:g.117243836G>C
CLNSRC CFTR2
CLNACC RCV000046712.2, RCV000056374.3,