rs878854968

Orientation

plus

Stabilized

plus

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

Make rs878854968(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

34500732

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs878854968
dbSNP (classic)	rs878854968
ClinGen	rs878854968
ebi	rs878854968
HLI	rs878854968
Exac	rs878854968
Gnomad	rs878854968
Varsome	rs878854968
LitVar	rs878854968
Map	rs878854968
PheGenI	rs878854968
Biobank	rs878854968
1000 genomes	rs878854968
hgdp	rs878854968
ensembl	rs878854968
geneview	rs878854968
scholar	rs878854968
google	rs878854968
pharmgkb	rs878854968
gwascentral	rs878854968
openSNP	rs878854968
23andMe	rs878854968
SNPshot	rs878854968
SNPdbe	rs878854968
MSV3d	rs878854968
GWAS Ctlg	rs878854968

Max Magnitude

3

c.912C>G (p.Tyr304Ter)

ClinVar
Risk	rs878854968(G;G)
Alt	rs878854968(G;G)
Reference	Rs878854968(C;C)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	DNAI1
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34500730C>G
CLNSRC
CLNACC	RCV000232560.1,