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rs587777498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587777498(-;GGGCA)
Make rs587777498(GGGCA;GGGCA)
ReferenceGRCh38 38.1/142
Chromosome5
Position55233276
GeneCCNO
is asnp
is mentioned by
dbSNPrs587777498
dbSNP (classic)rs587777498
ClinGenrs587777498
ebirs587777498
HLIrs587777498
Exacrs587777498
Gnomadrs587777498
Varsomers587777498
LitVarrs587777498
Maprs587777498
PheGenIrs587777498
Biobankrs587777498
1000 genomesrs587777498
hgdprs587777498
ensemblrs587777498
geneviewrs587777498
scholarrs587777498
googlers587777498
pharmgkbrs587777498
gwascentralrs587777498
openSNPrs587777498
23andMers587777498
SNPshotrs587777498
SNPdbers587777498
MSV3drs587777498
GWAS Ctlgrs587777498
Max Magnitude0
ClinVar
Risk rs587777498(GGGCA;GGGCA)
Alt rs587777498(GGGCA;GGGCA)
Reference Rs587777498(-;-)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene CCNO
CLNDBN Ciliary dyskinesia, primary, 29 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.54529100_54529104dupGGGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000128540.3, RCV000190941.1, RCV000472435.1,