rs118204053

Orientation

plus

Stabilized

plus

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

Make rs118204053(C;T)

Make rs118204053(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15559183

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs118204053
dbSNP (classic)	rs118204053
ClinGen	rs118204053
ebi	rs118204053
HLI	rs118204053
Exac	rs118204053
Gnomad	rs118204053
Varsome	rs118204053
LitVar	rs118204053
Map	rs118204053
PheGenI	rs118204053
Biobank	rs118204053
1000 genomes	rs118204053
hgdp	rs118204053
ensembl	rs118204053
geneview	rs118204053
scholar	rs118204053
google	rs118204053
pharmgkb	rs118204053
gwascentral	rs118204053
openSNP	rs118204053
23andMe	rs118204053
SNPshot	rs118204053
SNPdbe	rs118204053
MSV3d	rs118204053
GWAS Ctlg	rs118204053

Max Magnitude

0

OMIM	612013
Desc
Variant	0005
Related	also

ClinVar
Risk	rs118204053(T;T)
Alt	rs118204053(T;T)
Reference	Rs118204053(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 9
Variation	info
Gene	CC2D2A
CLNDBN	Joubert syndrome 9
Reversed	0
HGVS	NC_000004.11:g.15560806C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000781.4,