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rs397515540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515540(-;-)
Make rs397515540(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position13753290
GeneDNAH5
is asnp
is mentioned by
dbSNPrs397515540
ebirs397515540
HLIrs397515540
Exacrs397515540
Varsomers397515540
Maprs397515540
PheGenIrs397515540
hapmaprs397515540
1000 genomesrs397515540
hgdprs397515540
ensemblrs397515540
gopubmedrs397515540
geneviewrs397515540
scholarrs397515540
googlers397515540
pharmgkbrs397515540
gwascentralrs397515540
openSNPrs397515540
23andMers397515540
23andMe allrs397515540
SNP Nexus

SNPshotrs397515540
SNPdbers397515540
MSV3drs397515540
GWAS Ctlgrs397515540
Max Magnitude0
ClinVar
Risk rs397515540(;)
Alt rs397515540(;)
Reference rs397515540(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Ciliary dyskinesia, primary, 3 Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13753399delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055849.1, RCV000206560.1,