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rs397508442

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs397508442(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603708
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508442
ebirs397508442
HLIrs397508442
Exacrs397508442
Varsomers397508442
Maprs397508442
PheGenIrs397508442
hapmaprs397508442
1000 genomesrs397508442
hgdprs397508442
ensemblrs397508442
gopubmedrs397508442
geneviewrs397508442
scholarrs397508442
googlers397508442
pharmgkbrs397508442
gwascentralrs397508442
openSNPrs397508442
23andMers397508442
23andMe allrs397508442
SNP Nexus

SNPshotrs397508442
SNPdbers397508442
MSV3drs397508442
GWAS Ctlgrs397508442
Max Magnitude3

Cystic fibrosis; c.2834C>T, p.Ser945Leu

named i5011672 by 23andMe

ClinVar
Risk rs397508442(T;T)
Alt rs397508442(T;T)
Reference rs397508442(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243762C>T
CLNSRC CFTR2
CLNACC RCV000056372.5,