rs397515363

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;T)	3	Carrier of a primary ciliary dyskinesia mutation
(T;T)	5.5	Primary ciliary dyskinesia

Reference

GRCh38 38.1/141

Chromosome

9

Position

34459055

Gene	DNAI1, FAM219A

is a	snp
is	mentioned by
dbSNP	rs397515363
dbSNP (classic)	rs397515363
ClinGen	rs397515363
ebi	rs397515363
HLI	rs397515363
Exac	rs397515363
Gnomad	rs397515363
Varsome	rs397515363
LitVar	rs397515363
Map	rs397515363
PheGenI	rs397515363
Biobank	rs397515363
1000 genomes	rs397515363
hgdp	rs397515363
ensembl	rs397515363
geneview	rs397515363
scholar	rs397515363
google	rs397515363
pharmgkb	rs397515363
gwascentral	rs397515363
openSNP	rs397515363
23andMe	rs397515363
SNPshot	rs397515363
SNPdbe	rs397515363
MSV3d	rs397515363
GWAS Ctlg	rs397515363

Max Magnitude

5.5

aka c.48+2dupT (p.Ser17ValfsTer12)

This SNP may represent the most common DNAI1 gene mutation associated with primary ciliary dyskinesia.

ClinVar
Risk	Rs397515363(T;T)
Alt	Rs397515363(T;T)
Reference	Rs397515363(-;-)
Significance	Pathogenic
Disease	Kartagener syndrome Primary ciliary dyskinesia
Variation	info
Gene	DNAI1 FAM219A
CLNDBN	Kartagener syndrome Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000009.11:g.34459053dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005954.5, RCV000230151.2,