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rs387906370

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 3 cystic fibrosis carrier
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position117642487
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906370
dbSNP (classic)rs387906370
ClinGenrs387906370
ebirs387906370
HLIrs387906370
Exacrs387906370
Gnomadrs387906370
Varsomers387906370
LitVarrs387906370
Maprs387906370
PheGenIrs387906370
Biobankrs387906370
1000 genomesrs387906370
hgdprs387906370
ensemblrs387906370
geneviewrs387906370
scholarrs387906370
googlers387906370
pharmgkbrs387906370
gwascentralrs387906370
openSNPrs387906370
23andMers387906370
SNPshotrs387906370
SNPdbers387906370
MSV3drs387906370
GWAS Ctlgrs387906370
Max Magnitude3
ClinVar
Risk Rs387906370(C;C) rs387906370(T;T)
Alt Rs387906370(C;C) rs387906370(T;T)
Reference Rs387906370(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282541dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007598.4,