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rs1060501458

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501458(C;T)
Make rs1060501458(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13891020
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501458
dbSNP (old)rs1060501458
ClinGenrs1060501458
ebirs1060501458
HLIrs1060501458
Exacrs1060501458
Gnomadrs1060501458
Varsomers1060501458
Maprs1060501458
PheGenIrs1060501458
Biobankrs1060501458
1000 genomesrs1060501458
hgdprs1060501458
ensemblrs1060501458
gopubmedrs1060501458
geneviewrs1060501458
scholarrs1060501458
googlers1060501458
pharmgkbrs1060501458
gwascentralrs1060501458
openSNPrs1060501458
23andMers1060501458
23andMe allrs1060501458
SNPshotrs1060501458
SNPdbers1060501458
MSV3drs1060501458
GWAS Ctlgrs1060501458
Max Magnitude0
ClinVar
Risk rs1060501458(T;T)
Alt rs1060501458(T;T)
Reference Rs1060501458(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13891129G>A
CLNSRC
CLNACC RCV000469993.1,