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rs727502971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs727502971(-;-)
Make rs727502971(-;CAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position13708264
GeneDNAH5
is asnp
is mentioned by
dbSNPrs727502971
dbSNP (classic)rs727502971
ClinGenrs727502971
ebirs727502971
HLIrs727502971
Exacrs727502971
Gnomadrs727502971
Varsomers727502971
LitVarrs727502971
Maprs727502971
PheGenIrs727502971
Biobankrs727502971
1000 genomesrs727502971
hgdprs727502971
ensemblrs727502971
geneviewrs727502971
scholarrs727502971
googlers727502971
pharmgkbrs727502971
gwascentralrs727502971
openSNPrs727502971
23andMers727502971
SNPshotrs727502971
SNPdbers727502971
MSV3drs727502971
GWAS Ctlgrs727502971
Max Magnitude0
ClinVar
Risk rs727502971(-;-)
Alt rs727502971(-;-)
Reference Rs727502971(CAGA;CAGA)
Significance Probable-Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000005.9:g.13708373_13708376delTCTG
CLNSRC
CLNACC RCV000150465.1,