rs769284314

Orientation

plus

Stabilized

plus

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

Make rs769284314(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

34506870

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs769284314
dbSNP (classic)	rs769284314
ClinGen	rs769284314
ebi	rs769284314
HLI	rs769284314
Exac	rs769284314
Gnomad	rs769284314
Varsome	rs769284314
LitVar	rs769284314
Map	rs769284314
PheGenI	rs769284314
Biobank	rs769284314
1000 genomes	rs769284314
hgdp	rs769284314
ensembl	rs769284314
geneview	rs769284314
scholar	rs769284314
google	rs769284314
pharmgkb	rs769284314
gwascentral	rs769284314
openSNP	rs769284314
23andMe	rs769284314
SNPshot	rs769284314
SNPdbe	rs769284314
MSV3d	rs769284314
GWAS Ctlg	rs769284314

Max Magnitude

3

aka c.1307G>A (p.Trp436Ter)

ClinVar
Risk	rs769284314(A;A)
Alt	rs769284314(A;A)
Reference	Rs769284314(G;G)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	DNAI1
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34506868G>A
CLNSRC
CLNACC	RCV000228761.1,