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rs1060501461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501461(-;-)
Make rs1060501461(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13829661
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501461
dbSNP (classic)rs1060501461
ClinGenrs1060501461
ebirs1060501461
HLIrs1060501461
Exacrs1060501461
Gnomadrs1060501461
Varsomers1060501461
LitVarrs1060501461
Maprs1060501461
PheGenIrs1060501461
Biobankrs1060501461
1000 genomesrs1060501461
hgdprs1060501461
ensemblrs1060501461
geneviewrs1060501461
scholarrs1060501461
googlers1060501461
pharmgkbrs1060501461
gwascentralrs1060501461
openSNPrs1060501461
23andMers1060501461
SNPshotrs1060501461
SNPdbers1060501461
MSV3drs1060501461
GWAS Ctlgrs1060501461
Max Magnitude0
ClinVar
Risk rs1060501461(-;-)
Alt rs1060501461(-;-)
Reference Rs1060501461(A;A)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13829770delT
CLNSRC
CLNACC RCV000473515.1,