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rs397508702

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs397508702(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665556
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508702
ebirs397508702
HLIrs397508702
Exacrs397508702
Varsomers397508702
Maprs397508702
PheGenIrs397508702
hapmaprs397508702
1000 genomesrs397508702
hgdprs397508702
ensemblrs397508702
gopubmedrs397508702
geneviewrs397508702
scholarrs397508702
googlers397508702
pharmgkbrs397508702
gwascentralrs397508702
openSNPrs397508702
23andMers397508702
23andMe allrs397508702
SNP Nexus

SNPshotrs397508702
SNPdbers397508702
MSV3drs397508702
GWAS Ctlgrs397508702
Max Magnitude3

Cystic fibrosis; c.4234C>T, p.Gln1412Ter

named i5012163 by 23andMe

ClinVar
Risk rs397508702(T;T)
Alt rs397508702(T;T)
Reference rs397508702(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305610C>T
CLNSRC CFTR2
CLNACC RCV000047111.3,