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rs397508387

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs397508387(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117594930
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508387
ebirs397508387
HLIrs397508387
Exacrs397508387
Varsomers397508387
Maprs397508387
PheGenIrs397508387
hapmaprs397508387
1000 genomesrs397508387
hgdprs397508387
ensemblrs397508387
gopubmedrs397508387
geneviewrs397508387
scholarrs397508387
googlers397508387
pharmgkbrs397508387
gwascentralrs397508387
openSNPrs397508387
23andMers397508387
23andMe allrs397508387
SNP Nexus

SNPshotrs397508387
SNPdbers397508387
MSV3drs397508387
GWAS Ctlgrs397508387
Max Magnitude3

Cystic fibrosis; c.2491G>T, p.Glu831Ter

named i5011571 by 23andMe

ClinVar
Risk rs397508387(T;T)
Alt rs397508387(T;T)
Reference rs397508387(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117234984G>T
CLNSRC CFTR2
CLNACC RCV000056366.4,