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rs267607227

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607227(G;G)
Make rs267607227(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position84154748
GeneDNAAF1
is asnp
is mentioned by
dbSNPrs267607227
dbSNP (classic)rs267607227
ClinGenrs267607227
ebirs267607227
HLIrs267607227
Exacrs267607227
Gnomadrs267607227
Varsomers267607227
LitVarrs267607227
Maprs267607227
PheGenIrs267607227
Biobankrs267607227
1000 genomesrs267607227
hgdprs267607227
ensemblrs267607227
geneviewrs267607227
scholarrs267607227
googlers267607227
pharmgkbrs267607227
gwascentralrs267607227
openSNPrs267607227
23andMers267607227
SNPshotrs267607227
SNPdbers267607227
MSV3drs267607227
GWAS Ctlgrs267607227
Max Magnitude0
ClinVar
Risk rs267607227(G;G)
Alt rs267607227(G;G)
Reference Rs267607227(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene DNAAF1
CLNDBN Ciliary dyskinesia, primary, 13 Kartagener syndrome
Reversed 0
HGVS NC_000016.9:g.84188353T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000291.4, RCV000190914.1,