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rs397515541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515541(C;C)
Make rs397515541(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position13902053
GeneDNAH5
is asnp
is mentioned by
dbSNPrs397515541
ebirs397515541
HLIrs397515541
Exacrs397515541
Varsomers397515541
Maprs397515541
PheGenIrs397515541
hapmaprs397515541
1000 genomesrs397515541
hgdprs397515541
ensemblrs397515541
gopubmedrs397515541
geneviewrs397515541
scholarrs397515541
googlers397515541
pharmgkbrs397515541
gwascentralrs397515541
openSNPrs397515541
23andMers397515541
23andMe allrs397515541
SNP Nexus

SNPshotrs397515541
SNPdbers397515541
MSV3drs397515541
GWAS Ctlgrs397515541
Max Magnitude0
ClinVar
Risk rs397515541(C;C)
Alt rs397515541(C;C)
Reference rs397515541(G;G)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Ciliary dyskinesia, primary, 3
Reversed 1
HGVS NC_000005.9:g.13902162C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000055850.1,