rs147718607

Orientation

plus

Stabilized

plus

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

Make rs147718607(C;T)

Make rs147718607(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

48303953

Gene

CCDC114

is a	snp
is	mentioned by
dbSNP	rs147718607
dbSNP (classic)	rs147718607
ClinGen	rs147718607
ebi	rs147718607
HLI	rs147718607
Exac	rs147718607
Gnomad	rs147718607
Varsome	rs147718607
LitVar	rs147718607
Map	rs147718607
PheGenI	rs147718607
Biobank	rs147718607
1000 genomes	rs147718607
hgdp	rs147718607
ensembl	rs147718607
geneview	rs147718607
scholar	rs147718607
google	rs147718607
pharmgkb	rs147718607
gwascentral	rs147718607
openSNP	rs147718607
23andMe	rs147718607
SNPshot	rs147718607
SNPdbe	rs147718607
MSV3d	rs147718607
GWAS Ctlg	rs147718607

Max Magnitude

0

ClinVar
Risk	rs147718607(T;T)
Alt	rs147718607(T;T)
Reference	Rs147718607(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia Kartagener syndrome Primary ciliary dyskinesia
Variation	info
Gene	CCDC114
CLNDBN	Ciliary dyskinesia, primary, 20 Kartagener syndrome Primary ciliary dyskinesia
Reversed	0
HGVS	NC_000019.9:g.48807210C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032837.3, RCV000190918.1, RCV000231978.2,