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rs587777503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587777503(-;-)
Make rs587777503(-;AG)
ReferenceGRCh38 38.1/142
Chromosome5
Position55232446
GeneCCNO
is asnp
is mentioned by
dbSNPrs587777503
dbSNP (classic)rs587777503
ClinGenrs587777503
ebirs587777503
HLIrs587777503
Exacrs587777503
Gnomadrs587777503
Varsomers587777503
LitVarrs587777503
Maprs587777503
PheGenIrs587777503
Biobankrs587777503
1000 genomesrs587777503
hgdprs587777503
ensemblrs587777503
geneviewrs587777503
scholarrs587777503
googlers587777503
pharmgkbrs587777503
gwascentralrs587777503
openSNPrs587777503
23andMers587777503
SNPshotrs587777503
SNPdbers587777503
MSV3drs587777503
GWAS Ctlgrs587777503
Max Magnitude0
ClinVar
Risk rs587777503(-;-)
Alt rs587777503(-;-)
Reference Rs587777503(AG;AG)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene CCNO
CLNDBN Ciliary dyskinesia, primary, 29 Kartagener syndrome
Reversed 0
HGVS NC_000005.9:g.54528274_54528275delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128555.3, RCV000190944.1,