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rs769054713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769054713(A;A)
Make rs769054713(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position13777309
GeneDNAH5
is asnp
is mentioned by
dbSNPrs769054713
dbSNP (classic)rs769054713
ClinGenrs769054713
ebirs769054713
HLIrs769054713
Exacrs769054713
Gnomadrs769054713
Varsomers769054713
LitVarrs769054713
Maprs769054713
PheGenIrs769054713
Biobankrs769054713
1000 genomesrs769054713
hgdprs769054713
ensemblrs769054713
geneviewrs769054713
scholarrs769054713
googlers769054713
pharmgkbrs769054713
gwascentralrs769054713
openSNPrs769054713
23andMers769054713
SNPshotrs769054713
SNPdbers769054713
MSV3drs769054713
GWAS Ctlgrs769054713
Max Magnitude0
ClinVar
Risk rs769054713(A;A)
Alt rs769054713(A;A)
Reference Rs769054713(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13777418G>A
CLNSRC
CLNACC RCV000168445.2,