rs200669099

Orientation

plus

Stabilized

plus

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

Make rs200669099(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

34514468

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs200669099
dbSNP (classic)	rs200669099
ClinGen	rs200669099
ebi	rs200669099
HLI	rs200669099
Exac	rs200669099
Gnomad	rs200669099
Varsome	rs200669099
LitVar	rs200669099
Map	rs200669099
PheGenI	rs200669099
Biobank	rs200669099
1000 genomes	rs200669099
hgdp	rs200669099
ensembl	rs200669099
geneview	rs200669099
scholar	rs200669099
google	rs200669099
pharmgkb	rs200669099
gwascentral	rs200669099
openSNP	rs200669099
23andMe	rs200669099
SNPshot	rs200669099
SNPdbe	rs200669099
MSV3d	rs200669099
GWAS Ctlg	rs200669099

Max Magnitude

3

aka c.1644G>A (p.Trp548Ter)

ClinVar
Risk	rs200669099(A;A)
Alt	rs200669099(A;A)
Reference	Rs200669099(G;G)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	DNAI1
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34514466G>A
CLNSRC
CLNACC	RCV000231603.1,