rs147499872

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs147499872(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

13916424

Gene

DNAH5

is a	snp
is	mentioned by
dbSNP	rs147499872
dbSNP (classic)	rs147499872
ClinGen	rs147499872
ebi	rs147499872
HLI	rs147499872
Exac	rs147499872
Gnomad	rs147499872
Varsome	rs147499872
LitVar	rs147499872
Map	rs147499872
PheGenI	rs147499872
Biobank	rs147499872
1000 genomes	rs147499872
hgdp	rs147499872
ensembl	rs147499872
geneview	rs147499872
scholar	rs147499872
google	rs147499872
pharmgkb	rs147499872
gwascentral	rs147499872
openSNP	rs147499872
23andMe	rs147499872
SNPshot	rs147499872
SNPdbe	rs147499872
MSV3d	rs147499872
GWAS Ctlg	rs147499872

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs147499872(G;G)
Alt	rs147499872(G;G)
Reference	Rs147499872(A;A)
Significance	Pathogenic
Disease	Ciliary dyskinesia Primary ciliary dyskinesia
Variation	info
Gene	DNAH5
CLNDBN	Ciliary dyskinesia, primary, 3 Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000005.9:g.13916533A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032855.4, RCV000228082.3,