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rs121908854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908854(C;T)
Make rs121908854(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position21748602
GeneDNAH11
is asnp
is mentioned by
dbSNPrs121908854
dbSNP (classic)rs121908854
ClinGenrs121908854
ebirs121908854
HLIrs121908854
Exacrs121908854
Gnomadrs121908854
Varsomers121908854
LitVarrs121908854
Maprs121908854
PheGenIrs121908854
Biobankrs121908854
1000 genomesrs121908854
hgdprs121908854
ensemblrs121908854
geneviewrs121908854
scholarrs121908854
googlers121908854
pharmgkbrs121908854
gwascentralrs121908854
openSNPrs121908854
23andMers121908854
SNPshotrs121908854
SNPdbers121908854
MSV3drs121908854
GWAS Ctlgrs121908854
GMAF0.003673
Max Magnitude0
OMIM603339
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908854(A;A) rs121908854(G;G) rs121908854(T;T)
Alt rs121908854(A;A) rs121908854(G;G) rs121908854(T;T)
Reference Rs121908854(C;C)
Significance Other
Disease Primary ciliary dyskinesia Ciliary dyskinesia
Variation info
Gene DNAH11
CLNDBN Primary ciliary dyskinesia Ciliary dyskinesia, primary, 7
Reversed 0
HGVS NC_000007.13:g.21788220C>A; NC_000007.13:g.21788220C>G; NC_000007.13:g.21788220C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000470056.1, RCV000378006.1, RCV000006847.4,