rs397514561

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier for a primary ciliary dyskinesia-18 mutation
(T;T)	0	common in clinvar

Make rs397514561(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

780097

Gene

DNAAF5

is a	snp
is	mentioned by
dbSNP	rs397514561
dbSNP (classic)	rs397514561
ClinGen	rs397514561
ebi	rs397514561
HLI	rs397514561
Exac	rs397514561
Gnomad	rs397514561
Varsome	rs397514561
LitVar	rs397514561
Map	rs397514561
PheGenI	rs397514561
Biobank	rs397514561
1000 genomes	rs397514561
hgdp	rs397514561
ensembl	rs397514561
geneview	rs397514561
scholar	rs397514561
google	rs397514561
pharmgkb	rs397514561
gwascentral	rs397514561
openSNP	rs397514561
23andMe	rs397514561
SNPshot	rs397514561
SNPdbe	rs397514561
MSV3d	rs397514561
GWAS Ctlg	rs397514561

Max Magnitude

3

see OMIM 614864.0001

ClinVar
Risk	rs397514561(C;C)
Alt	rs397514561(C;C)
Reference	Rs397514561(T;T)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	DNAAF5
CLNDBN	Ciliary dyskinesia, primary, 18
Reversed	0
HGVS	NC_000007.13:g.819734T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032886.3,