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rs781469274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs781469274(A;A)
Make rs781469274(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position13792128
GeneDNAH5
is asnp
is mentioned by
dbSNPrs781469274
dbSNP (classic)rs781469274
ClinGenrs781469274
ebirs781469274
HLIrs781469274
Exacrs781469274
Gnomadrs781469274
Varsomers781469274
LitVarrs781469274
Maprs781469274
PheGenIrs781469274
Biobankrs781469274
1000 genomesrs781469274
hgdprs781469274
ensemblrs781469274
geneviewrs781469274
scholarrs781469274
googlers781469274
pharmgkbrs781469274
gwascentralrs781469274
openSNPrs781469274
23andMers781469274
SNPshotrs781469274
SNPdbers781469274
MSV3drs781469274
GWAS Ctlgrs781469274
Max Magnitude0
ClinVar
Risk rs781469274(A;A)
Alt rs781469274(A;A)
Reference Rs781469274(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13792237G>A
CLNSRC
CLNACC RCV000473928.1,