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rs863223325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs863223325(-;-)
Make rs863223325(-;AT)
Make rs863223325(AT;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position48918754
GeneCCDC65
is asnp
is mentioned by
dbSNPrs863223325
ClinGenrs863223325
ebirs863223325
HLIrs863223325
Exacrs863223325
Varsomers863223325
Maprs863223325
PheGenIrs863223325
hapmaprs863223325
1000 genomesrs863223325
hgdprs863223325
ensemblrs863223325
gopubmedrs863223325
geneviewrs863223325
scholarrs863223325
googlers863223325
pharmgkbrs863223325
gwascentralrs863223325
openSNPrs863223325
23andMers863223325
23andMe allrs863223325
SNP Nexus

SNPshotrs863223325
SNPdbers863223325
MSV3drs863223325
GWAS Ctlgrs863223325
Max Magnitude0
ClinVar
Risk rs863223325(-;-) Rs863223325(TA;TA)
Alt rs863223325(-;-) Rs863223325(TA;TA)
Reference rs863223325(AT;AT)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene CCDC65
CLNDBN Ciliary dyskinesia, primary, 27 Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000012.11:g.49312537_49312538delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000074368.4, RCV000190940.1, RCV000215832.1,