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rs397508470

From SNPedia

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


Make rs397508470(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610518
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508470
ebirs397508470
HLIrs397508470
Exacrs397508470
Varsomers397508470
Maprs397508470
PheGenIrs397508470
hapmaprs397508470
1000 genomesrs397508470
hgdprs397508470
ensemblrs397508470
gopubmedrs397508470
geneviewrs397508470
scholarrs397508470
googlers397508470
pharmgkbrs397508470
gwascentralrs397508470
openSNPrs397508470
23andMers397508470
23andMe allrs397508470
SNP Nexus

SNPshotrs397508470
SNPdbers397508470
MSV3drs397508470
GWAS Ctlgrs397508470
Max Magnitude3

Cystic fibrosis; c.2989-1G>A


ClinVar
Risk rs397508470(A;A)
Alt rs397508470(A;A)
Reference rs397508470(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117250572G>A
CLNSRC CFTR2
CLNACC RCV000056376.4,