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rs587778819

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587778819(-;-)
Make rs587778819(-;TGT)
Make rs587778819(TGT;TGT)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80089876
GeneCCDC40
is asnp
is mentioned by
dbSNPrs587778819
ebirs587778819
HLIrs587778819
Exacrs587778819
Varsomers587778819
Maprs587778819
PheGenIrs587778819
hapmaprs587778819
1000 genomesrs587778819
hgdprs587778819
ensemblrs587778819
gopubmedrs587778819
geneviewrs587778819
scholarrs587778819
googlers587778819
pharmgkbrs587778819
gwascentralrs587778819
openSNPrs587778819
23andMers587778819
23andMe allrs587778819
SNP Nexus

SNPshotrs587778819
SNPdbers587778819
MSV3drs587778819
GWAS Ctlgrs587778819
Max Magnitude0
ClinVar
Risk rs587778819(ACTGT,ATGT;ACTGT,ATGT)
Alt rs587778819(ACTGT,ATGT;ACTGT,ATGT)
Reference rs587778819(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC40
CLNDBN Ciliary dyskinesia, primary, 15
Reversed 0
HGVS NC_000017.10:g.78063675_78063676insCTGT; NC_000017.10:g.78063675_78063676insTGT
CLNSRC
CLNACC RCV000175218.1, RCV000056177.1,