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rs374909386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374909386(C;T)
Make rs374909386(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position80099700
GeneCCDC40, GAA
is asnp
is mentioned by
dbSNPrs374909386
dbSNP (classic)rs374909386
ClinGenrs374909386
ebirs374909386
HLIrs374909386
Exacrs374909386
Gnomadrs374909386
Varsomers374909386
LitVarrs374909386
Maprs374909386
PheGenIrs374909386
Biobankrs374909386
1000 genomesrs374909386
hgdprs374909386
ensemblrs374909386
geneviewrs374909386
scholarrs374909386
googlers374909386
pharmgkbrs374909386
gwascentralrs374909386
openSNPrs374909386
23andMers374909386
SNPshotrs374909386
SNPdbers374909386
MSV3drs374909386
GWAS Ctlgrs374909386
Max Magnitude0
ClinVar
Risk rs374909386(A;A) rs374909386(T;T)
Alt rs374909386(A;A) rs374909386(T;T)
Reference Rs374909386(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC40 GAA
CLNDBN Ciliary dyskinesia, primary, 15
Reversed 0
HGVS NC_000017.10:g.78073499C>A
CLNSRC
CLNACC RCV000176107.1,