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rs1060503388

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503388(C;T)
Make rs1060503388(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position55231653
GeneCCNO
is asnp
is mentioned by
dbSNPrs1060503388
dbSNP (classic)rs1060503388
ClinGenrs1060503388
ebirs1060503388
HLIrs1060503388
Exacrs1060503388
Gnomadrs1060503388
Varsomers1060503388
LitVarrs1060503388
Maprs1060503388
PheGenIrs1060503388
Biobankrs1060503388
1000 genomesrs1060503388
hgdprs1060503388
ensemblrs1060503388
geneviewrs1060503388
scholarrs1060503388
googlers1060503388
pharmgkbrs1060503388
gwascentralrs1060503388
openSNPrs1060503388
23andMers1060503388
SNPshotrs1060503388
SNPdbers1060503388
MSV3drs1060503388
GWAS Ctlgrs1060503388
Max Magnitude0
ClinVar
Risk rs1060503388(T;T)
Alt rs1060503388(T;T)
Reference Rs1060503388(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene CCNO
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.54527481G>A
CLNSRC
CLNACC RCV000464206.1,