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rs1530498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1530498(A;G)
Make rs1530498(G;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position13902111
GeneDNAH5
is asnp
is mentioned by
dbSNPrs1530498
dbSNP (old)rs1530498
ClinGenrs1530498
ebirs1530498
HLIrs1530498
Exacrs1530498
Gnomadrs1530498
Varsomers1530498
Maprs1530498
PheGenIrs1530498
Biobankrs1530498
1000 genomesrs1530498
hgdprs1530498
ensemblrs1530498
gopubmedrs1530498
geneviewrs1530498
scholarrs1530498
googlers1530498
pharmgkbrs1530498
gwascentralrs1530498
openSNPrs1530498
23andMers1530498
23andMe allrs1530498
SNPshotrs1530498
SNPdbers1530498
MSV3drs1530498
GWAS Ctlgrs1530498
GMAF0.4555
Max Magnitude0
? (A;A) (A;G) (G;G) 28



ClinVar
Risk rs1530498(G;G)
Alt rs1530498(G;G)
Reference Rs1530498(A;A)
Significance Non-pathogenic
Disease not specified Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN not specified Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13902220T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000150488.2, RCV000394892.1,