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rs397508183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs397508183(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117548671
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508183
ebirs397508183
HLIrs397508183
Exacrs397508183
Varsomers397508183
Maprs397508183
PheGenIrs397508183
hapmaprs397508183
1000 genomesrs397508183
hgdprs397508183
ensemblrs397508183
gopubmedrs397508183
geneviewrs397508183
scholarrs397508183
googlers397508183
pharmgkbrs397508183
gwascentralrs397508183
openSNPrs397508183
23andMers397508183
23andMe allrs397508183
SNP Nexus

SNPshotrs397508183
SNPdbers397508183
MSV3drs397508183
GWAS Ctlgrs397508183
Max Magnitude3

Cystic fibrosis; c.1240C>T, p.Gln414Ter

named i5011184 by 23andMe


ClinVar
Risk rs397508183(T;T)
Alt rs397508183(T;T)
Reference rs397508183(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117188725C>T
CLNSRC CFTR2
CLNACC RCV000046266.3,