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rs397508538

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs397508538(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611751
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508538
ebirs397508538
HLIrs397508538
Exacrs397508538
Varsomers397508538
Maprs397508538
PheGenIrs397508538
hapmaprs397508538
1000 genomesrs397508538
hgdprs397508538
ensemblrs397508538
gopubmedrs397508538
geneviewrs397508538
scholarrs397508538
googlers397508538
pharmgkbrs397508538
gwascentralrs397508538
openSNPrs397508538
23andMers397508538
23andMe allrs397508538
SNP Nexus

SNPshotrs397508538
SNPdbers397508538
MSV3drs397508538
GWAS Ctlgrs397508538
Max Magnitude3

Cystic fibrosis; c.3310G>T, p.Glu1104Ter

named i5011868 by 23andMe

ClinVar
Risk rs397508538(T;T)
Alt rs397508538(T;T)
Reference rs397508538(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251805G>T
CLNSRC CFTR2
CLNACC RCV000056381.3,