Have questions? Visit https://www.reddit.com/r/SNPedia

rs397508227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs397508227(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117559644
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508227
ebirs397508227
HLIrs397508227
Exacrs397508227
Varsomers397508227
Maprs397508227
PheGenIrs397508227
hapmaprs397508227
1000 genomesrs397508227
hgdprs397508227
ensemblrs397508227
gopubmedrs397508227
geneviewrs397508227
scholarrs397508227
googlers397508227
pharmgkbrs397508227
gwascentralrs397508227
openSNPrs397508227
23andMers397508227
23andMe allrs397508227
SNP Nexus

SNPshotrs397508227
SNPdbers397508227
MSV3drs397508227
GWAS Ctlgrs397508227
Max Magnitude3

Cystic fibrosis; c.1573C>T, p.Gln525Ter

named i5011284 by 23andMe

ClinVar
Risk rs397508227(T;T)
Alt rs397508227(T;T)
Reference rs397508227(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117199698C>T
CLNSRC CFTR2
CLNACC RCV000046342.3,