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rs397515341

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515341(-;-)
Make rs397515341(-;ACGATACCTGCGTGGC)
Make rs397515341(ACGATACCTGCGTGGC;ACGATACCTGCGTGGC)
ReferenceGRCh38 38.1/141
Chromosome14
Position49633935
GeneDNAAF2
is asnp
is mentioned by
dbSNPrs397515341
ebirs397515341
HLIrs397515341
Exacrs397515341
Varsomers397515341
Maprs397515341
PheGenIrs397515341
hapmaprs397515341
1000 genomesrs397515341
hgdprs397515341
ensemblrs397515341
gopubmedrs397515341
geneviewrs397515341
scholarrs397515341
googlers397515341
pharmgkbrs397515341
gwascentralrs397515341
openSNPrs397515341
23andMers397515341
23andMe allrs397515341
SNP Nexus

SNPshotrs397515341
SNPdbers397515341
MSV3drs397515341
GWAS Ctlgrs397515341
Max Magnitude0
ClinVar
Risk rs397515341(ACGATACCTGCGTGGC;ACGATACCTGCGTGGC)
Alt rs397515341(ACGATACCTGCGTGGC;ACGATACCTGCGTGGC)
Reference rs397515341(;)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene DNAAF2
CLNDBN Ciliary dyskinesia, primary, 10 Kartagener syndrome
Reversed 1
HGVS NC_000014.8:g.50100654_50100669dup16
CLNSRC OMIM Allelic Variant
CLNACC RCV000000558.5, RCV000190873.1,