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rs397508350

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs397508350(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592362
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508350
ebirs397508350
HLIrs397508350
Exacrs397508350
Varsomers397508350
Maprs397508350
PheGenIrs397508350
hapmaprs397508350
1000 genomesrs397508350
hgdprs397508350
ensemblrs397508350
gopubmedrs397508350
geneviewrs397508350
scholarrs397508350
googlers397508350
pharmgkbrs397508350
gwascentralrs397508350
openSNPrs397508350
23andMers397508350
23andMe allrs397508350
SNP Nexus

SNPshotrs397508350
SNPdbers397508350
MSV3drs397508350
GWAS Ctlgrs397508350
Max Magnitude3

Cystic fibrosis; c.2195T>G, p.Leu732Ter

named i5011511 by 23andMe

ClinVar
Risk rs397508350(G;G)
Alt rs397508350(G;G)
Reference rs397508350(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232416T>G
CLNSRC CFTR2
CLNACC RCV000056360.3,