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rs1060501464

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501464(C;T)
Make rs1060501464(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13735167
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501464
dbSNP (old)rs1060501464
ClinGenrs1060501464
ebirs1060501464
HLIrs1060501464
Exacrs1060501464
Gnomadrs1060501464
Varsomers1060501464
Maprs1060501464
PheGenIrs1060501464
Biobankrs1060501464
1000 genomesrs1060501464
hgdprs1060501464
ensemblrs1060501464
gopubmedrs1060501464
geneviewrs1060501464
scholarrs1060501464
googlers1060501464
pharmgkbrs1060501464
gwascentralrs1060501464
openSNPrs1060501464
23andMers1060501464
23andMe allrs1060501464
SNPshotrs1060501464
SNPdbers1060501464
MSV3drs1060501464
GWAS Ctlgrs1060501464
Max Magnitude0
ClinVar
Risk rs1060501464(T;T)
Alt rs1060501464(T;T)
Reference Rs1060501464(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13735276G>A
CLNSRC
CLNACC RCV000461296.1,