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rs397508675

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs397508675(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117664835
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508675
ebirs397508675
HLIrs397508675
Exacrs397508675
Varsomers397508675
Maprs397508675
PheGenIrs397508675
hapmaprs397508675
1000 genomesrs397508675
hgdprs397508675
ensemblrs397508675
gopubmedrs397508675
geneviewrs397508675
scholarrs397508675
googlers397508675
pharmgkbrs397508675
gwascentralrs397508675
openSNPrs397508675
23andMers397508675
23andMe allrs397508675
SNP Nexus

SNPshotrs397508675
SNPdbers397508675
MSV3drs397508675
GWAS Ctlgrs397508675
Max Magnitude3

Cystic fibrosis; c.4111G>T, p.Glu1371Ter

named i5012129 by 23andMe

ClinVar
Risk rs397508675(T;T)
Alt rs397508675(T;T)
Reference rs397508675(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117304889G>T
CLNSRC CFTR2
CLNACC RCV000047076.4,