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rs672601333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs672601333(-;T)
Make rs672601333(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position13894819
GeneDNAH5
is asnp
is mentioned by
dbSNPrs672601333
dbSNP (classic)rs672601333
ClinGenrs672601333
ebirs672601333
HLIrs672601333
Exacrs672601333
Gnomadrs672601333
Varsomers672601333
LitVarrs672601333
Maprs672601333
PheGenIrs672601333
Biobankrs672601333
1000 genomesrs672601333
hgdprs672601333
ensemblrs672601333
geneviewrs672601333
scholarrs672601333
googlers672601333
pharmgkbrs672601333
gwascentralrs672601333
openSNPrs672601333
23andMers672601333
SNPshotrs672601333
SNPdbers672601333
MSV3drs672601333
GWAS Ctlgrs672601333
Max Magnitude0
ClinVar
Risk rs672601333(T;T)
Alt rs672601333(T;T)
Reference Rs672601333(-;-)
Significance Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene DNAH5
CLNDBN Ciliary dyskinesia, primary, 3
Reversed 1
HGVS NC_000005.9:g.13894929dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032853.5,