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rs1060501457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1060501457(A;A)
Make rs1060501457(A;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13829680
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1060501457
dbSNP (old)rs1060501457
ClinGenrs1060501457
ebirs1060501457
HLIrs1060501457
Exacrs1060501457
Gnomadrs1060501457
Varsomers1060501457
LitVarrs1060501457
Maprs1060501457
PheGenIrs1060501457
Biobankrs1060501457
1000 genomesrs1060501457
hgdprs1060501457
ensemblrs1060501457
gopubmedrs1060501457
geneviewrs1060501457
scholarrs1060501457
googlers1060501457
pharmgkbrs1060501457
gwascentralrs1060501457
openSNPrs1060501457
23andMers1060501457
23andMe allrs1060501457
SNPshotrs1060501457
SNPdbers1060501457
MSV3drs1060501457
GWAS Ctlgrs1060501457
Max Magnitude0
ClinVar
Risk rs1060501457(A;A)
Alt rs1060501457(A;A)
Reference Rs1060501457(GG;GG)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13829789_13829790delCCinsT
CLNSRC
CLNACC RCV000477558.1,