rs79833450

Orientation

plus

Stabilized

plus

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

Make rs79833450(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34513165

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs79833450
dbSNP (classic)	rs79833450
ClinGen	rs79833450
ebi	rs79833450
HLI	rs79833450
Exac	rs79833450
Gnomad	rs79833450
Varsome	rs79833450
LitVar	rs79833450
Map	rs79833450
PheGenI	rs79833450
Biobank	rs79833450
1000 genomes	rs79833450
hgdp	rs79833450
ensembl	rs79833450
geneview	rs79833450
scholar	rs79833450
google	rs79833450
pharmgkb	rs79833450
gwascentral	rs79833450
openSNP	rs79833450
23andMe	rs79833450
SNPshot	rs79833450
SNPdbe	rs79833450
MSV3d	rs79833450
GWAS Ctlg	rs79833450

Merged from

Rs28939369

Max Magnitude

3

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,