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rs397508799

From SNPedia

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


Make rs397508799(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117536632
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508799
ebirs397508799
HLIrs397508799
Exacrs397508799
Varsomers397508799
Maprs397508799
PheGenIrs397508799
hapmaprs397508799
1000 genomesrs397508799
hgdprs397508799
ensemblrs397508799
gopubmedrs397508799
geneviewrs397508799
scholarrs397508799
googlers397508799
pharmgkbrs397508799
gwascentralrs397508799
openSNPrs397508799
23andMers397508799
23andMe allrs397508799
SNP Nexus

SNPshotrs397508799
SNPdbers397508799
MSV3drs397508799
GWAS Ctlgrs397508799
Max Magnitude3

Cystic fibrosis; c.828C>A, Cys276Ter or C276X

named i5011011 by 23andMe

ClinVar
Risk rs397508799(A;A)
Alt rs397508799(A;A)
Reference rs397508799(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117176686C>A
CLNSRC CFTR2
CLNACC RCV000047263.4,