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rs571919972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs571919972(A;A)
Make rs571919972(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position13758881
GeneDNAH5
is asnp
is mentioned by
dbSNPrs571919972
dbSNP (classic)rs571919972
ClinGenrs571919972
ebirs571919972
HLIrs571919972
Exacrs571919972
Gnomadrs571919972
Varsomers571919972
LitVarrs571919972
Maprs571919972
PheGenIrs571919972
Biobankrs571919972
1000 genomesrs571919972
hgdprs571919972
ensemblrs571919972
geneviewrs571919972
scholarrs571919972
googlers571919972
pharmgkbrs571919972
gwascentralrs571919972
openSNPrs571919972
23andMers571919972
SNPshotrs571919972
SNPdbers571919972
MSV3drs571919972
GWAS Ctlgrs571919972
Max Magnitude0
ClinVar
Risk rs571919972(A;A)
Alt rs571919972(A;A)
Reference Rs571919972(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000005.9:g.13758990G>A
CLNSRC
CLNACC RCV000233866.2,