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rs387906379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 cystic fibrosis carrier
Make rs387906379(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627545
GeneCFTR
is asnp
is mentioned by
dbSNPrs387906379
dbSNP (classic)rs387906379
ClinGenrs387906379
ebirs387906379
HLIrs387906379
Exacrs387906379
Gnomadrs387906379
Varsomers387906379
LitVarrs387906379
Maprs387906379
PheGenIrs387906379
Biobankrs387906379
1000 genomesrs387906379
hgdprs387906379
ensemblrs387906379
geneviewrs387906379
scholarrs387906379
googlers387906379
pharmgkbrs387906379
gwascentralrs387906379
openSNPrs387906379
23andMers387906379
SNPshotrs387906379
SNPdbers387906379
MSV3drs387906379
GWAS Ctlgrs387906379
Merged fromRs397508576
Max Magnitude3
ClinVar
Risk rs387906379(T;T)
Alt rs387906379(T;T)
Reference Rs387906379(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267599dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007652.4,