rs376252276

Orientation

plus

Stabilized

plus

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

Make rs376252276(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

34513112

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs376252276
dbSNP (classic)	rs376252276
ClinGen	rs376252276
ebi	rs376252276
HLI	rs376252276
Exac	rs376252276
Gnomad	rs376252276
Varsome	rs376252276
LitVar	rs376252276
Map	rs376252276
PheGenI	rs376252276
Biobank	rs376252276
1000 genomes	rs376252276
hgdp	rs376252276
ensembl	rs376252276
geneview	rs376252276
scholar	rs376252276
google	rs376252276
pharmgkb	rs376252276
gwascentral	rs376252276
openSNP	rs376252276
23andMe	rs376252276
SNPshot	rs376252276
SNPdbe	rs376252276
MSV3d	rs376252276
GWAS Ctlg	rs376252276

Max Magnitude

3

aka c.1490G>A (p.Gly497Asp)

ClinVar
Risk	rs376252276(A;A) rs376252276(T;T)
Alt	rs376252276(A;A) rs376252276(T;T)
Reference	Rs376252276(G;G)
Significance	Pathogenic
Disease	Kartagener syndrome
Variation	info
Gene	DNAI1
CLNDBN	Kartagener syndrome
Reversed	0
HGVS	NC_000009.11:g.34513110G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055932.2,