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rs397515358

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515358(G;G)
Make rs397515358(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position74286974
GeneDNAI2
is asnp
is mentioned by
dbSNPrs397515358
dbSNP (classic)rs397515358
ClinGenrs397515358
ebirs397515358
HLIrs397515358
Exacrs397515358
Gnomadrs397515358
Varsomers397515358
LitVarrs397515358
Maprs397515358
PheGenIrs397515358
Biobankrs397515358
1000 genomesrs397515358
hgdprs397515358
ensemblrs397515358
geneviewrs397515358
scholarrs397515358
googlers397515358
pharmgkbrs397515358
gwascentralrs397515358
openSNPrs397515358
23andMers397515358
SNPshotrs397515358
SNPdbers397515358
MSV3drs397515358
GWAS Ctlgrs397515358
Max Magnitude0
ClinVar
Risk rs397515358(G;G)
Alt rs397515358(G;G)
Reference Rs397515358(T;T)
Significance Pathogenic
Disease Ciliary dyskinesia Kartagener syndrome
Variation info
Gene DNAI2
CLNDBN Ciliary dyskinesia, primary, 9 Kartagener syndrome
Reversed 0
HGVS NC_000017.10:g.72283113T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005242.4, RCV000190865.1,