rs542708170

Orientation

plus

Stabilized

plus

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

Make rs542708170(C;T)

Make rs542708170(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

13864632

Gene

DNAH5

is a	snp
is	mentioned by
dbSNP	rs542708170
dbSNP (classic)	rs542708170
ClinGen	rs542708170
ebi	rs542708170
HLI	rs542708170
Exac	rs542708170
Gnomad	rs542708170
Varsome	rs542708170
LitVar	rs542708170
Map	rs542708170
PheGenI	rs542708170
Biobank	rs542708170
1000 genomes	rs542708170
hgdp	rs542708170
ensembl	rs542708170
geneview	rs542708170
scholar	rs542708170
google	rs542708170
pharmgkb	rs542708170
gwascentral	rs542708170
openSNP	rs542708170
23andMe	rs542708170
SNPshot	rs542708170
SNPdbe	rs542708170
MSV3d	rs542708170
GWAS Ctlg	rs542708170

Max Magnitude

0

ClinVar
Risk	rs542708170(T;T)
Alt	rs542708170(T;T)
Reference	Rs542708170(C;C)
Significance	Probable-Pathogenic
Disease	not specified Primary ciliary dyskinesia Ciliary dyskinesia
Variation	info
Gene	DNAH5
CLNDBN	not specified Primary ciliary dyskinesia Ciliary dyskinesia, primary, 3
Reversed	0
HGVS	NC_000005.9:g.13864741C>T
CLNSRC
CLNACC	RCV000266533.1, RCV000303721.1, RCV000477841.1,