rs1060501719

Orientation

plus

Stabilized

plus

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

Make rs1060501719(ACCG;ACCG)

Make rs1060501719(ACCG;CA)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

80087748

Gene

CCDC40

is a	snp
is	mentioned by
dbSNP	rs1060501719
dbSNP (classic)	rs1060501719
ClinGen	rs1060501719
ebi	rs1060501719
HLI	rs1060501719
Exac	rs1060501719
Gnomad	rs1060501719
Varsome	rs1060501719
LitVar	rs1060501719
Map	rs1060501719
PheGenI	rs1060501719
Biobank	rs1060501719
1000 genomes	rs1060501719
hgdp	rs1060501719
ensembl	rs1060501719
geneview	rs1060501719
scholar	rs1060501719
google	rs1060501719
pharmgkb	rs1060501719
gwascentral	rs1060501719
openSNP	rs1060501719
23andMe	rs1060501719
SNPshot	rs1060501719
SNPdbe	rs1060501719
MSV3d	rs1060501719
GWAS Ctlg	rs1060501719

Max Magnitude

0

ClinVar
Risk	rs1060501719(ACCG;ACCG)
Alt	rs1060501719(ACCG;ACCG)
Reference	Rs1060501719(CA;CA)
Significance	Pathogenic
Disease	Primary ciliary dyskinesia
Variation	info
Gene	CCDC40
CLNDBN	Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000017.10:g.78061547_78061548delCAinsACCG
CLNSRC
CLNACC	RCV000463298.1,