rs118204052

Orientation

plus

Stabilized

plus

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

Make rs118204052(C;T)

Make rs118204052(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15599614

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs118204052
dbSNP (classic)	rs118204052
ClinGen	rs118204052
ebi	rs118204052
HLI	rs118204052
Exac	rs118204052
Gnomad	rs118204052
Varsome	rs118204052
LitVar	rs118204052
Map	rs118204052
PheGenI	rs118204052
Biobank	rs118204052
1000 genomes	rs118204052
hgdp	rs118204052
ensembl	rs118204052
geneview	rs118204052
scholar	rs118204052
google	rs118204052
pharmgkb	rs118204052
gwascentral	rs118204052
openSNP	rs118204052
23andMe	rs118204052
SNPshot	rs118204052
SNPdbe	rs118204052
MSV3d	rs118204052
GWAS Ctlg	rs118204052

Max Magnitude

0

OMIM	612013
Desc
Variant	0004
Related	also

ClinVar
Risk	rs118204052(T;T)
Alt	rs118204052(T;T)
Reference	Rs118204052(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 9 not provided
Variation	info
Gene	CC2D2A
CLNDBN	Joubert syndrome 9 not provided
Reversed	0
HGVS	NC_000004.11:g.15601237C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000780.4, RCV000445290.1,