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rs878854457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854457(C;C)
Make rs878854457(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position13850651
GeneDNAH5
is asnp
is mentioned by
dbSNPrs878854457
dbSNP (classic)rs878854457
ClinGenrs878854457
ebirs878854457
HLIrs878854457
Exacrs878854457
Gnomadrs878854457
Varsomers878854457
LitVarrs878854457
Maprs878854457
PheGenIrs878854457
Biobankrs878854457
1000 genomesrs878854457
hgdprs878854457
ensemblrs878854457
geneviewrs878854457
scholarrs878854457
googlers878854457
pharmgkbrs878854457
gwascentralrs878854457
openSNPrs878854457
23andMers878854457
SNPshotrs878854457
SNPdbers878854457
MSV3drs878854457
GWAS Ctlgrs878854457
Max Magnitude0
ClinVar
Risk rs878854457(C;C)
Alt rs878854457(C;C)
Reference Rs878854457(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13850760C>G
CLNSRC
CLNACC RCV000229823.1,