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rs397515563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Carrier of a primary ciliary dyskinesia mutation
(G;G) 0 common in clinvar


Make rs397515563(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position34517468
GeneDNAI1
is asnp
is mentioned by
dbSNPrs397515563
dbSNP (classic)rs397515563
ClinGenrs397515563
ebirs397515563
HLIrs397515563
Exacrs397515563
Gnomadrs397515563
Varsomers397515563
LitVarrs397515563
Maprs397515563
PheGenIrs397515563
Biobankrs397515563
1000 genomesrs397515563
hgdprs397515563
ensemblrs397515563
geneviewrs397515563
scholarrs397515563
googlers397515563
pharmgkbrs397515563
gwascentralrs397515563
openSNPrs397515563
23andMers397515563
SNPshotrs397515563
SNPdbers397515563
MSV3drs397515563
GWAS Ctlgrs397515563
Max Magnitude3

aka c.2001+1G>A (p.Ala607_Lys667del)

ClinVar
Risk rs397515563(A;A)
Alt rs397515563(A;A)
Reference Rs397515563(G;G)
Significance Pathogenic
Disease Kartagener syndrome
Variation info
Gene DNAI1
CLNDBN Kartagener syndrome
Reversed 0
HGVS NC_000009.11:g.34517466G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055933.2,