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rs397508328

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a cystic fibrosis allele
Make rs397508328(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480095
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508328
ebirs397508328
HLIrs397508328
Exacrs397508328
Varsomers397508328
Maprs397508328
PheGenIrs397508328
hapmaprs397508328
1000 genomesrs397508328
hgdprs397508328
ensemblrs397508328
gopubmedrs397508328
geneviewrs397508328
scholarrs397508328
googlers397508328
pharmgkbrs397508328
gwascentralrs397508328
openSNPrs397508328
23andMers397508328
23andMe allrs397508328
SNP Nexus

SNPshotrs397508328
SNPdbers397508328
MSV3drs397508328
GWAS Ctlgrs397508328
Max Magnitude3

Cystic fibrosis; c.1A>G, M1V

named i5010634 as well as i5010635 by 23andMe


ClinVar
Risk rs397508328(G;G)
Alt rs397508328(G;G)
Reference rs397508328(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120149A>G
CLNSRC CFTR2
CLNACC RCV000056356.4,