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rs727502977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502977(-;-)
Make rs727502977(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position13919319
GeneDNAH5
is asnp
is mentioned by
dbSNPrs727502977
dbSNP (classic)rs727502977
ClinGenrs727502977
ebirs727502977
HLIrs727502977
Exacrs727502977
Gnomadrs727502977
Varsomers727502977
LitVarrs727502977
Maprs727502977
PheGenIrs727502977
Biobankrs727502977
1000 genomesrs727502977
hgdprs727502977
ensemblrs727502977
geneviewrs727502977
scholarrs727502977
googlers727502977
pharmgkbrs727502977
gwascentralrs727502977
openSNPrs727502977
23andMers727502977
SNPshotrs727502977
SNPdbers727502977
MSV3drs727502977
GWAS Ctlgrs727502977
Max Magnitude0
ClinVar
Risk rs727502977(-;-)
Alt rs727502977(-;-)
Reference Rs727502977(G;G)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13919428delC
CLNSRC
CLNACC RCV000150491.1,