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rs339445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(C;C) 0 common in complete genomics
Make rs339445(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position13944403
GeneDNAH5
is asnp
is mentioned by
dbSNPrs339445
dbSNP (classic)rs339445
ClinGenrs339445
ebirs339445
HLIrs339445
Exacrs339445
Gnomadrs339445
Varsomers339445
LitVarrs339445
Maprs339445
PheGenIrs339445
Biobankrs339445
1000 genomesrs339445
hgdprs339445
ensemblrs339445
geneviewrs339445
scholarrs339445
googlers339445
pharmgkbrs339445
gwascentralrs339445
openSNPrs339445
23andMers339445
SNPshotrs339445
SNPdbers339445
MSV3drs339445
GWAS Ctlgrs339445
GMAF0.08494
Max Magnitude0
? (A;A) (A;C) (C;C) 28





ClinVar
Risk Rs339445(C;C)
Alt Rs339445(C;C)
Reference Rs339445(A;A)
Significance Non-pathogenic
Disease not specified Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN not specified Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13944512A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000155520.2, RCV000303227.1,