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rs587778820

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587778820(-;-)
Make rs587778820(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position180619334
GeneCCDC39
is asnp
is mentioned by
dbSNPrs587778820
dbSNP (classic)rs587778820
ClinGenrs587778820
ebirs587778820
HLIrs587778820
Exacrs587778820
Gnomadrs587778820
Varsomers587778820
LitVarrs587778820
Maprs587778820
PheGenIrs587778820
Biobankrs587778820
1000 genomesrs587778820
hgdprs587778820
ensemblrs587778820
geneviewrs587778820
scholarrs587778820
googlers587778820
pharmgkbrs587778820
gwascentralrs587778820
openSNPrs587778820
23andMers587778820
SNPshotrs587778820
SNPdbers587778820
MSV3drs587778820
GWAS Ctlgrs587778820
Max Magnitude0
ClinVar
Risk rs587778820(-;-)
Alt rs587778820(-;-)
Reference Rs587778820(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene CCDC39
CLNDBN Ciliary dyskinesia, primary, 14
Reversed 1
HGVS NC_000003.11:g.180337122delT
CLNSRC
CLNACC RCV000056197.1,