rs397515393

Orientation

plus

Stabilized

plus

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

Make rs397515393(-;-)

Make rs397515393(-;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

80039966

Gene

CCDC40

is a	snp
is	mentioned by
dbSNP	rs397515393
dbSNP (classic)	rs397515393
ClinGen	rs397515393
ebi	rs397515393
HLI	rs397515393
Exac	rs397515393
Gnomad	rs397515393
Varsome	rs397515393
LitVar	rs397515393
Map	rs397515393
PheGenI	rs397515393
Biobank	rs397515393
1000 genomes	rs397515393
hgdp	rs397515393
ensembl	rs397515393
geneview	rs397515393
scholar	rs397515393
google	rs397515393
pharmgkb	rs397515393
gwascentral	rs397515393
openSNP	rs397515393
23andMe	rs397515393
SNPshot	rs397515393
SNPdbe	rs397515393
MSV3d	rs397515393
GWAS Ctlg	rs397515393

Max Magnitude

0

ClinVar
Risk	rs397515393(-;-)
Alt	rs397515393(-;-)
Reference	Rs397515393(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia Primary ciliary dyskinesia
Variation	info
Gene	CCDC40
CLNDBN	Ciliary dyskinesia, primary, 15 Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000017.10:g.78013765delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024063.6, RCV000199691.4,