rs118204051

Orientation

plus

Stabilized

plus

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

Make rs118204051(C;T)

Make rs118204051(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15567752

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs118204051
dbSNP (classic)	rs118204051
ClinGen	rs118204051
ebi	rs118204051
HLI	rs118204051
Exac	rs118204051
Gnomad	rs118204051
Varsome	rs118204051
LitVar	rs118204051
Map	rs118204051
PheGenI	rs118204051
Biobank	rs118204051
1000 genomes	rs118204051
hgdp	rs118204051
ensembl	rs118204051
geneview	rs118204051
scholar	rs118204051
google	rs118204051
pharmgkb	rs118204051
gwascentral	rs118204051
openSNP	rs118204051
23andMe	rs118204051
SNPshot	rs118204051
SNPdbe	rs118204051
MSV3d	rs118204051
GWAS Ctlg	rs118204051

Max Magnitude

0

OMIM	612013
Desc
Variant	0003
Related	also

ClinVar
Risk	rs118204051(T;T)
Alt	rs118204051(T;T)
Reference	Rs118204051(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 9
Variation	info
Gene	CC2D2A
CLNDBN	Joubert syndrome 9
Reversed	0
HGVS	NC_000004.11:g.15569375C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000779.4,