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rs397508476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397508476(A;A)
Make rs397508476(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117480096
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508476
dbSNP (classic)rs397508476
ClinGenrs397508476
ebirs397508476
HLIrs397508476
Exacrs397508476
Gnomadrs397508476
Varsomers397508476
LitVarrs397508476
Maprs397508476
PheGenIrs397508476
Biobankrs397508476
1000 genomesrs397508476
hgdprs397508476
ensemblrs397508476
geneviewrs397508476
scholarrs397508476
googlers397508476
pharmgkbrs397508476
gwascentralrs397508476
openSNPrs397508476
23andMers397508476
SNPshotrs397508476
SNPdbers397508476
MSV3drs397508476
GWAS Ctlgrs397508476
Max Magnitude0
ClinVar
Risk rs397508476(A;A) rs397508476(C;C)
Alt rs397508476(A;A) rs397508476(C;C)
Reference Rs397508476(T;T)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117120150T>A; NC_000007.13:g.117120150T>C
CLNSRC ClinVar
CLNACC RCV000046750.2, RCV000046751.3,