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rs1060501466

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501466(G;T)
Make rs1060501466(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13867773
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501466
dbSNP (old)rs1060501466
ClinGenrs1060501466
ebirs1060501466
HLIrs1060501466
Exacrs1060501466
Gnomadrs1060501466
Varsomers1060501466
Maprs1060501466
PheGenIrs1060501466
Biobankrs1060501466
1000 genomesrs1060501466
hgdprs1060501466
ensemblrs1060501466
gopubmedrs1060501466
geneviewrs1060501466
scholarrs1060501466
googlers1060501466
pharmgkbrs1060501466
gwascentralrs1060501466
openSNPrs1060501466
23andMers1060501466
23andMe allrs1060501466
SNPshotrs1060501466
SNPdbers1060501466
MSV3drs1060501466
GWAS Ctlgrs1060501466
Max Magnitude0
ClinVar
Risk rs1060501466(T;T)
Alt rs1060501466(T;T)
Reference Rs1060501466(G;G)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13867882C>A
CLNSRC
CLNACC RCV000469666.1,