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rs387907093

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907093(C;T)
Make rs387907093(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80058885
GeneCCDC40
is asnp
is mentioned by
dbSNPrs387907093
ebirs387907093
HLIrs387907093
Exacrs387907093
Varsomers387907093
Maprs387907093
PheGenIrs387907093
hapmaprs387907093
1000 genomesrs387907093
hgdprs387907093
ensemblrs387907093
gopubmedrs387907093
geneviewrs387907093
scholarrs387907093
googlers387907093
pharmgkbrs387907093
gwascentralrs387907093
openSNPrs387907093
23andMers387907093
23andMe allrs387907093
SNP Nexus

SNPshotrs387907093
SNPdbers387907093
MSV3drs387907093
GWAS Ctlgrs387907093
Max Magnitude0
ClinVar
Risk rs387907093(A,T;A,T)
Alt rs387907093(A,T;A,T)
Reference rs387907093(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Ciliary dyskinesia, primary, 15
Reversed 0
HGVS NC_000017.10:g.78032684C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024066.2,