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rs1060501467

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501467(A;A)
Make rs1060501467(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13708130
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501467
dbSNP (old)rs1060501467
ClinGenrs1060501467
ebirs1060501467
HLIrs1060501467
Exacrs1060501467
Gnomadrs1060501467
Varsomers1060501467
Maprs1060501467
PheGenIrs1060501467
Biobankrs1060501467
1000 genomesrs1060501467
hgdprs1060501467
ensemblrs1060501467
gopubmedrs1060501467
geneviewrs1060501467
scholarrs1060501467
googlers1060501467
pharmgkbrs1060501467
gwascentralrs1060501467
openSNPrs1060501467
23andMers1060501467
23andMe allrs1060501467
SNPshotrs1060501467
SNPdbers1060501467
MSV3drs1060501467
GWAS Ctlgrs1060501467
Max Magnitude0
ClinVar
Risk rs1060501467(A;A)
Alt rs1060501467(A;A)
Reference Rs1060501467(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13708239C>T
CLNSRC
CLNACC RCV000462143.1,