rs201133219

Orientation

plus

Stabilized

plus

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

Make rs201133219(C;T)

Make rs201133219(T;T)

Reference

GRCh38 38.1/142

Chromosome

19

Position

48297995

Gene

CCDC114

is a	snp
is	mentioned by
dbSNP	rs201133219
dbSNP (classic)	rs201133219
ClinGen	rs201133219
ebi	rs201133219
HLI	rs201133219
Exac	rs201133219
Gnomad	rs201133219
Varsome	rs201133219
LitVar	rs201133219
Map	rs201133219
PheGenI	rs201133219
Biobank	rs201133219
1000 genomes	rs201133219
hgdp	rs201133219
ensembl	rs201133219
geneview	rs201133219
scholar	rs201133219
google	rs201133219
pharmgkb	rs201133219
gwascentral	rs201133219
openSNP	rs201133219
23andMe	rs201133219
SNPshot	rs201133219
SNPdbe	rs201133219
MSV3d	rs201133219
GWAS Ctlg	rs201133219

Max Magnitude

0

ClinVar
Risk	rs201133219(T;T)
Alt	rs201133219(T;T)
Reference	Rs201133219(C;C)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	CCDC114
CLNDBN	Ciliary dyskinesia, primary, 20
Reversed	0
HGVS	NC_000019.9:g.48801252C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032840.3,