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rs387907152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907152(C;T)
Make rs387907152(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position55165427
GeneDNAAF3
is asnp
is mentioned by
dbSNPrs387907152
dbSNP (classic)rs387907152
ClinGenrs387907152
ebirs387907152
HLIrs387907152
Exacrs387907152
Gnomadrs387907152
Varsomers387907152
LitVarrs387907152
Maprs387907152
PheGenIrs387907152
Biobankrs387907152
1000 genomesrs387907152
hgdprs387907152
ensemblrs387907152
geneviewrs387907152
scholarrs387907152
googlers387907152
pharmgkbrs387907152
gwascentralrs387907152
openSNPrs387907152
23andMers387907152
SNPshotrs387907152
SNPdbers387907152
MSV3drs387907152
GWAS Ctlgrs387907152
Max Magnitude0
ClinVar
Risk rs387907152(T;T)
Alt rs387907152(T;T)
Reference Rs387907152(C;C)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene DNAAF3
CLNDBN Ciliary dyskinesia, primary, 2 Kartagener syndrome
Reversed 1
HGVS NC_000019.9:g.55676795G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024244.4, RCV000190869.1,