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rs121908853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908853(C;T)
Make rs121908853(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position13901476
GeneDNAH5
is asnp
is mentioned by
dbSNPrs121908853
dbSNP (classic)rs121908853
ClinGenrs121908853
ebirs121908853
HLIrs121908853
Exacrs121908853
Gnomadrs121908853
Varsomers121908853
LitVarrs121908853
Maprs121908853
PheGenIrs121908853
Biobankrs121908853
1000 genomesrs121908853
hgdprs121908853
ensemblrs121908853
geneviewrs121908853
scholarrs121908853
googlers121908853
pharmgkbrs121908853
gwascentralrs121908853
openSNPrs121908853
23andMers121908853
SNPshotrs121908853
SNPdbers121908853
MSV3drs121908853
GWAS Ctlgrs121908853
Max Magnitude0
OMIM603335
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908853(G;G) rs121908853(T;T)
Alt rs121908853(G;G) rs121908853(T;T)
Reference Rs121908853(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Ciliary dyskinesia, primary, 3
Reversed 1
HGVS NC_000005.9:g.13901585G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006853.3,