rs606231240

Orientation

minus

Stabilized

minus

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

Make rs606231240(-;-)

Make rs606231240(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

48303034

Gene

CCDC114

is a	snp
is	mentioned by
dbSNP	rs606231240
dbSNP (classic)	rs606231240
ClinGen	rs606231240
ebi	rs606231240
HLI	rs606231240
Exac	rs606231240
Gnomad	rs606231240
Varsome	rs606231240
LitVar	rs606231240
Map	rs606231240
PheGenI	rs606231240
Biobank	rs606231240
1000 genomes	rs606231240
hgdp	rs606231240
ensembl	rs606231240
geneview	rs606231240
scholar	rs606231240
google	rs606231240
pharmgkb	rs606231240
gwascentral	rs606231240
openSNP	rs606231240
23andMe	rs606231240
SNPshot	rs606231240
SNPdbe	rs606231240
MSV3d	rs606231240
GWAS Ctlg	rs606231240

Max Magnitude

0

ClinVar
Risk	rs606231240(-;-)
Alt	rs606231240(-;-)
Reference	Rs606231240(T;T)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	CCDC114
CLNDBN	Ciliary dyskinesia, primary, 20
Reversed	1
HGVS	NC_000019.9:g.48806291delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032841.3,