rs876657683

Orientation

plus

Stabilized

plus

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

Make rs876657683(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

34489397

Gene

DNAI1

is a	snp
is	mentioned by
dbSNP	rs876657683
dbSNP (classic)	rs876657683
ClinGen	rs876657683
ebi	rs876657683
HLI	rs876657683
Exac	rs876657683
Gnomad	rs876657683
Varsome	rs876657683
LitVar	rs876657683
Map	rs876657683
PheGenI	rs876657683
Biobank	rs876657683
1000 genomes	rs876657683
hgdp	rs876657683
ensembl	rs876657683
geneview	rs876657683
scholar	rs876657683
google	rs876657683
pharmgkb	rs876657683
gwascentral	rs876657683
openSNP	rs876657683
23andMe	rs876657683
SNPshot	rs876657683
SNPdbe	rs876657683
MSV3d	rs876657683
GWAS Ctlg	rs876657683

Max Magnitude

3

aka c.336delC (p.Asp114Thrfs)

ClinVar
Risk	rs876657683(-;-)
Alt	rs876657683(-;-)
Reference	Rs876657683(C;C)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	DNAI1
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34489395delC
CLNSRC
CLNACC	RCV000216627.1,