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rs387907091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907091(C;T)
Make rs387907091(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80058649
GeneCCDC40
is asnp
is mentioned by
dbSNPrs387907091
ebirs387907091
HLIrs387907091
Exacrs387907091
Varsomers387907091
Maprs387907091
PheGenIrs387907091
hapmaprs387907091
1000 genomesrs387907091
hgdprs387907091
ensemblrs387907091
gopubmedrs387907091
geneviewrs387907091
scholarrs387907091
googlers387907091
pharmgkbrs387907091
gwascentralrs387907091
openSNPrs387907091
23andMers387907091
23andMe allrs387907091
SNP Nexus

SNPshotrs387907091
SNPdbers387907091
MSV3drs387907091
GWAS Ctlgrs387907091
Max Magnitude0
ClinVar
Risk rs387907091(T;T)
Alt rs387907091(T;T)
Reference rs387907091(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Ciliary dyskinesia, primary, 15
Reversed 0
HGVS NC_000017.10:g.78032448C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024064.2,