Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515393

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515393(-;-)
Make rs397515393(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position80039966
GeneCCDC40
is asnp
is mentioned by
dbSNPrs397515393
ebirs397515393
HLIrs397515393
Exacrs397515393
Varsomers397515393
Maprs397515393
PheGenIrs397515393
hapmaprs397515393
1000 genomesrs397515393
hgdprs397515393
ensemblrs397515393
gopubmedrs397515393
geneviewrs397515393
scholarrs397515393
googlers397515393
pharmgkbrs397515393
gwascentralrs397515393
openSNPrs397515393
23andMers397515393
23andMe allrs397515393
SNP Nexus

SNPshotrs397515393
SNPdbers397515393
MSV3drs397515393
GWAS Ctlgrs397515393
Max Magnitude0
ClinVar
Risk rs397515393(;)
Alt rs397515393(;)
Reference rs397515393(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Ciliary dyskinesia, primary, 15 Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.78013765delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024063.5, RCV000199691.3,