rs397515563

Orientation

plus

Stabilized

plus

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

Make rs397515563(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34517468

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs397515563
dbSNP (classic)	rs397515563
ClinGen	rs397515563
ebi	rs397515563
HLI	rs397515563
Exac	rs397515563
Gnomad	rs397515563
Varsome	rs397515563
LitVar	rs397515563
Map	rs397515563
PheGenI	rs397515563
Biobank	rs397515563
1000 genomes	rs397515563
hgdp	rs397515563
ensembl	rs397515563
geneview	rs397515563
scholar	rs397515563
google	rs397515563
pharmgkb	rs397515563
gwascentral	rs397515563
openSNP	rs397515563
23andMe	rs397515563
SNPshot	rs397515563
SNPdbe	rs397515563
MSV3d	rs397515563
GWAS Ctlg	rs397515563

Max Magnitude

3

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,