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rs1060501460

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501460(-;-)
Make rs1060501460(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13776447
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501460
dbSNP (old)rs1060501460
ClinGenrs1060501460
ebirs1060501460
HLIrs1060501460
Exacrs1060501460
Gnomadrs1060501460
Varsomers1060501460
Maprs1060501460
PheGenIrs1060501460
Biobankrs1060501460
1000 genomesrs1060501460
hgdprs1060501460
ensemblrs1060501460
gopubmedrs1060501460
geneviewrs1060501460
scholarrs1060501460
googlers1060501460
pharmgkbrs1060501460
gwascentralrs1060501460
openSNPrs1060501460
23andMers1060501460
23andMe allrs1060501460
SNPshotrs1060501460
SNPdbers1060501460
MSV3drs1060501460
GWAS Ctlgrs1060501460
Max Magnitude0
ClinVar
Risk rs1060501460(-;-)
Alt rs1060501460(-;-)
Reference Rs1060501460(T;T)
Significance Pathogenic
Disease Primary ciliary dyskinesia Ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia Ciliary dyskinesia, primary, 3
Reversed 1
HGVS NC_000005.9:g.13776556delA
CLNSRC
CLNACC RCV000465747.1, RCV000490388.1,