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rs397515363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 3 Carrier of a primary ciliary dyskinesia mutation
(T;T) 5.5 Primary ciliary dyskinesia
ReferenceGRCh38 38.1/141
Chromosome9
Position34459055
GeneDNAI1, FAM219A
is asnp
is mentioned by
dbSNPrs397515363
dbSNP (classic)rs397515363
ClinGenrs397515363
ebirs397515363
HLIrs397515363
Exacrs397515363
Gnomadrs397515363
Varsomers397515363
LitVarrs397515363
Maprs397515363
PheGenIrs397515363
Biobankrs397515363
1000 genomesrs397515363
hgdprs397515363
ensemblrs397515363
geneviewrs397515363
scholarrs397515363
googlers397515363
pharmgkbrs397515363
gwascentralrs397515363
openSNPrs397515363
23andMers397515363
23andMe allrs397515363
SNPshotrs397515363
SNPdbers397515363
MSV3drs397515363
GWAS Ctlgrs397515363
Max Magnitude5.5

aka c.48+2dupT (p.Ser17ValfsTer12)

This SNP may represent the most common DNAI1 gene mutation associated with primary ciliary dyskinesia.


ClinVar
Risk Rs397515363(T;T)
Alt Rs397515363(T;T)
Reference Rs397515363(-;-)
Significance Pathogenic
Disease Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene DNAI1 FAM219A
CLNDBN Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34459053dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005954.5, RCV000230151.2,