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rs79833450

From SNPedia

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


Make rs79833450(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position34513165
GeneDNAI1
is asnp
is mentioned by
dbSNPrs79833450
dbSNP (classic)rs79833450
ClinGenrs79833450
ebirs79833450
HLIrs79833450
Exacrs79833450
Gnomadrs79833450
Varsomers79833450
LitVarrs79833450
Maprs79833450
PheGenIrs79833450
Biobankrs79833450
1000 genomesrs79833450
hgdprs79833450
ensemblrs79833450
geneviewrs79833450
scholarrs79833450
googlers79833450
pharmgkbrs79833450
gwascentralrs79833450
openSNPrs79833450
23andMers79833450
SNPshotrs79833450
SNPdbers79833450
MSV3drs79833450
GWAS Ctlgrs79833450
Merged fromRs28939369
Max Magnitude3

aka c.1543G>A (p.Gly515Ser)

FTDNA & MyHeritage name: VG09S31849

ClinVar
Risk rs79833450(A;A)
Alt rs79833450(A;A)
Reference Rs79833450(G;G)
Significance Pathogenic
Disease Kartagener syndrome Primary ciliary dyskinesia
Variation info
Gene DNAI1
CLNDBN Kartagener syndrome Primary ciliary dyskinesia
Reversed 0
HGVS NC_000009.11:g.34513163G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005956.3, RCV000468431.1,