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rs587777499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs587777499(-;GGGCC)
Make rs587777499(GGGCC;GGGCC)
ReferenceGRCh38 38.1/142
Chromosome5
Position55233266
GeneCCNO
is asnp
is mentioned by
dbSNPrs587777499
dbSNP (classic)rs587777499
ClinGenrs587777499
ebirs587777499
HLIrs587777499
Exacrs587777499
Gnomadrs587777499
Varsomers587777499
LitVarrs587777499
Maprs587777499
PheGenIrs587777499
Biobankrs587777499
1000 genomesrs587777499
hgdprs587777499
ensemblrs587777499
geneviewrs587777499
scholarrs587777499
googlers587777499
pharmgkbrs587777499
gwascentralrs587777499
openSNPrs587777499
23andMers587777499
SNPshotrs587777499
SNPdbers587777499
MSV3drs587777499
GWAS Ctlgrs587777499
Max Magnitude0
ClinVar
Risk rs587777499(GGGCC;GGGCC)
Alt rs587777499(GGGCC;GGGCC)
Reference Rs587777499(-;-)
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.54529090_54529094dupGGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000128541.4, RCV000190942.1,