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rs387907092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907092(C;T)
Make rs387907092(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position80082020
GeneCCDC40
is asnp
is mentioned by
dbSNPrs387907092
ebirs387907092
HLIrs387907092
Exacrs387907092
Varsomers387907092
Maprs387907092
PheGenIrs387907092
hapmaprs387907092
1000 genomesrs387907092
hgdprs387907092
ensemblrs387907092
gopubmedrs387907092
geneviewrs387907092
scholarrs387907092
googlers387907092
pharmgkbrs387907092
gwascentralrs387907092
openSNPrs387907092
23andMers387907092
23andMe allrs387907092
SNP Nexus

SNPshotrs387907092
SNPdbers387907092
MSV3drs387907092
GWAS Ctlgrs387907092
Max Magnitude0
ClinVar
Risk rs387907092(T;T)
Alt rs387907092(T;T)
Reference rs387907092(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Ciliary dyskinesia, primary, 15
Reversed 0
HGVS NC_000017.10:g.78055819C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024065.2,