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rs397508279

From SNPedia

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


Make rs397508279(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509039
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508279
dbSNP (classic)rs397508279
ClinGenrs397508279
ebirs397508279
HLIrs397508279
Exacrs397508279
Gnomadrs397508279
Varsomers397508279
LitVarrs397508279
Maprs397508279
PheGenIrs397508279
Biobankrs397508279
1000 genomesrs397508279
hgdprs397508279
ensemblrs397508279
geneviewrs397508279
scholarrs397508279
googlers397508279
pharmgkbrs397508279
gwascentralrs397508279
openSNPrs397508279
23andMers397508279
SNPshotrs397508279
SNPdbers397508279
MSV3drs397508279
GWAS Ctlgrs397508279
Max Magnitude3
ClinVar
Risk rs397508279(A;A)
Alt rs397508279(A;A)
Reference Rs397508279(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149093G>A
CLNSRC CFTR2
CLNACC RCV000046437.3,