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rs1060501454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501454(C;C)
Make rs1060501454(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13780960
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501454
dbSNP (classic)rs1060501454
ClinGenrs1060501454
ebirs1060501454
HLIrs1060501454
Exacrs1060501454
Gnomadrs1060501454
Varsomers1060501454
LitVarrs1060501454
Maprs1060501454
PheGenIrs1060501454
Biobankrs1060501454
1000 genomesrs1060501454
hgdprs1060501454
ensemblrs1060501454
geneviewrs1060501454
scholarrs1060501454
googlers1060501454
pharmgkbrs1060501454
gwascentralrs1060501454
openSNPrs1060501454
23andMers1060501454
23andMe allrs1060501454
SNPshotrs1060501454
SNPdbers1060501454
MSV3drs1060501454
GWAS Ctlgrs1060501454
Max Magnitude0
ClinVar
Risk rs1060501454(C;C)
Alt rs1060501454(C;C)
Reference Rs1060501454(G;G)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13781069C>G
CLNSRC
CLNACC RCV000467095.1,