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rs775946081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775946081(A;A)
Make rs775946081(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position13793710
GeneDNAH5
is asnp
is mentioned by
dbSNPrs775946081
dbSNP (classic)rs775946081
ClinGenrs775946081
ebirs775946081
HLIrs775946081
Exacrs775946081
Gnomadrs775946081
Varsomers775946081
LitVarrs775946081
Maprs775946081
PheGenIrs775946081
Biobankrs775946081
1000 genomesrs775946081
hgdprs775946081
ensemblrs775946081
geneviewrs775946081
scholarrs775946081
googlers775946081
pharmgkbrs775946081
gwascentralrs775946081
openSNPrs775946081
23andMers775946081
SNPshotrs775946081
SNPdbers775946081
MSV3drs775946081
GWAS Ctlgrs775946081
Max Magnitude0
ClinVar
Risk rs775946081(A;A)
Alt rs775946081(A;A)
Reference Rs775946081(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13793819G>A
CLNSRC
CLNACC RCV000232132.2,