rs606231238

Orientation

minus

Stabilized

minus

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

Make rs606231238(A;A)

Make rs606231238(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

48311552

Gene

CCDC114

is a	snp
is	mentioned by
dbSNP	rs606231238
dbSNP (classic)	rs606231238
ClinGen	rs606231238
ebi	rs606231238
HLI	rs606231238
Exac	rs606231238
Gnomad	rs606231238
Varsome	rs606231238
LitVar	rs606231238
Map	rs606231238
PheGenI	rs606231238
Biobank	rs606231238
1000 genomes	rs606231238
hgdp	rs606231238
ensembl	rs606231238
geneview	rs606231238
scholar	rs606231238
google	rs606231238
pharmgkb	rs606231238
gwascentral	rs606231238
openSNP	rs606231238
23andMe	rs606231238
SNPshot	rs606231238
SNPdbe	rs606231238
MSV3d	rs606231238
GWAS Ctlg	rs606231238

Max Magnitude

0

ClinVar
Risk	rs606231238(A;A)
Alt	rs606231238(A;A)
Reference	Rs606231238(G;G)
Significance	Pathogenic
Disease	Ciliary dyskinesia
Variation	info
Gene	CCDC114
CLNDBN	Ciliary dyskinesia, primary, 20
Reversed	1
HGVS	NC_000019.9:g.48814809C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032838.3,