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rs1060501456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501456(C;T)
Make rs1060501456(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13721014
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501456
dbSNP (classic)rs1060501456
ClinGenrs1060501456
ebirs1060501456
HLIrs1060501456
Exacrs1060501456
Gnomadrs1060501456
Varsomers1060501456
LitVarrs1060501456
Maprs1060501456
PheGenIrs1060501456
Biobankrs1060501456
1000 genomesrs1060501456
hgdprs1060501456
ensemblrs1060501456
geneviewrs1060501456
scholarrs1060501456
googlers1060501456
pharmgkbrs1060501456
gwascentralrs1060501456
openSNPrs1060501456
23andMers1060501456
SNPshotrs1060501456
SNPdbers1060501456
MSV3drs1060501456
GWAS Ctlgrs1060501456
Max Magnitude0
ClinVar
Risk rs1060501456(T;T)
Alt rs1060501456(T;T)
Reference Rs1060501456(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13721123G>A
CLNSRC
CLNACC RCV000469460.1,