rs1530498

Orientation

minus

Stabilized

minus

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

Make rs1530498(A;G)

Make rs1530498(G;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

13902111

Gene

DNAH5

is a	snp
is	mentioned by
dbSNP	rs1530498
dbSNP (classic)	rs1530498
ClinGen	rs1530498
ebi	rs1530498
HLI	rs1530498
Exac	rs1530498
Gnomad	rs1530498
Varsome	rs1530498
LitVar	rs1530498
Map	rs1530498
PheGenI	rs1530498
Biobank	rs1530498
1000 genomes	rs1530498
hgdp	rs1530498
ensembl	rs1530498
geneview	rs1530498
scholar	rs1530498
google	rs1530498
pharmgkb	rs1530498
gwascentral	rs1530498
openSNP	rs1530498
23andMe	rs1530498
SNPshot	rs1530498
SNPdbe	rs1530498
MSV3d	rs1530498
GWAS Ctlg	rs1530498

GMAF

0.4555

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs1530498(G;G)
Alt	rs1530498(G;G)
Reference	Rs1530498(A;A)
Significance	Non-pathogenic
Disease	not specified Primary ciliary dyskinesia
Variation	info
Gene	DNAH5
CLNDBN	not specified Primary ciliary dyskinesia
Reversed	1
HGVS	NC_000005.9:g.13902220T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000150488.2, RCV000394892.1,