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rs397508168

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 rs397508168(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117504314
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508168
ebirs397508168
HLIrs397508168
Exacrs397508168
Varsomers397508168
Maprs397508168
PheGenIrs397508168
hapmaprs397508168
1000 genomesrs397508168
hgdprs397508168
ensemblrs397508168
gopubmedrs397508168
geneviewrs397508168
scholarrs397508168
googlers397508168
pharmgkbrs397508168
gwascentralrs397508168
openSNPrs397508168
23andMers397508168
23andMe allrs397508168
SNP Nexus

SNPshotrs397508168
SNPdbers397508168
MSV3drs397508168
GWAS Ctlgrs397508168
Max Magnitude3

cystic fibrosis; c.115C>T, Gln39Ter or Q39X


ClinVar
Risk rs397508168(T;T)
Alt rs397508168(T;T)
Reference rs397508168(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117144368C>T
CLNSRC CFTR2
CLNACC RCV000056342.4,