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rs147499872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147499872(A;G)
Make rs147499872(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position13916424
GeneDNAH5
is asnp
is mentioned by
dbSNPrs147499872
ebirs147499872
HLIrs147499872
Exacrs147499872
Varsomers147499872
Maprs147499872
PheGenIrs147499872
hapmaprs147499872
1000 genomesrs147499872
hgdprs147499872
ensemblrs147499872
gopubmedrs147499872
geneviewrs147499872
scholarrs147499872
googlers147499872
pharmgkbrs147499872
gwascentralrs147499872
openSNPrs147499872
23andMers147499872
23andMe allrs147499872
SNP Nexus

SNPshotrs147499872
SNPdbers147499872
MSV3drs147499872
GWAS Ctlgrs147499872
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs147499872(G;G)
Alt rs147499872(G;G)
Reference rs147499872(A;A)
Significance Pathogenic
Disease Ciliary dyskinesia Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Ciliary dyskinesia, primary, 3 Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13916533A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032855.4, RCV000228082.1,