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rs397508532

From SNPedia

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


Make rs397508532(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611734
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508532
dbSNP (classic)rs397508532
ClinGenrs397508532
ebirs397508532
HLIrs397508532
Exacrs397508532
Gnomadrs397508532
Varsomers397508532
LitVarrs397508532
Maprs397508532
PheGenIrs397508532
Biobankrs397508532
1000 genomesrs397508532
hgdprs397508532
ensemblrs397508532
geneviewrs397508532
scholarrs397508532
googlers397508532
pharmgkbrs397508532
gwascentralrs397508532
openSNPrs397508532
23andMers397508532
SNPshotrs397508532
SNPdbers397508532
MSV3drs397508532
GWAS Ctlgrs397508532
Max Magnitude3
ClinVar
Risk rs397508532(A;A)
Alt rs397508532(A;A)
Reference Rs397508532(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251788G>A
CLNSRC CFTR2
CLNACC RCV000046855.3,