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rs397508461

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs397508461(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530917
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508461
ebirs397508461
HLIrs397508461
Exacrs397508461
Varsomers397508461
Maprs397508461
PheGenIrs397508461
hapmaprs397508461
1000 genomesrs397508461
hgdprs397508461
ensemblrs397508461
gopubmedrs397508461
geneviewrs397508461
scholarrs397508461
googlers397508461
pharmgkbrs397508461
gwascentralrs397508461
openSNPrs397508461
23andMers397508461
23andMe allrs397508461
SNP Nexus

SNPshotrs397508461
SNPdbers397508461
MSV3drs397508461
GWAS Ctlgrs397508461
Max Magnitude3

Cystic fibrosis; c.292C>T, Gln98Ter or Q98X

named i5010801 by 23andMe

ClinVar
Risk rs397508461(T;T)
Alt rs397508461(T;T)
Reference rs397508461(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117170971C>T
CLNSRC CFTR2
CLNACC RCV000056375.4,