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rs397508435

From SNPedia

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


Make rs397508435(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603654
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508435
ebirs397508435
HLIrs397508435
Exacrs397508435
Varsomers397508435
Maprs397508435
PheGenIrs397508435
hapmaprs397508435
1000 genomesrs397508435
hgdprs397508435
ensemblrs397508435
gopubmedrs397508435
geneviewrs397508435
scholarrs397508435
googlers397508435
pharmgkbrs397508435
gwascentralrs397508435
openSNPrs397508435
23andMers397508435
23andMe allrs397508435
SNP Nexus

SNPshotrs397508435
SNPdbers397508435
MSV3drs397508435
GWAS Ctlgrs397508435
Max Magnitude3

Cystic fibrosis; c.2780T>C, p.Leu927Pro

named i5011662 by 23andMe

ClinVar
Risk rs397508435(C;C)
Alt rs397508435(C;C)
Reference rs397508435(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243708T>C
CLNSRC CFTR2
CLNACC RCV000056371.3,