rs386833760

Orientation

plus

Stabilized

plus

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

Make rs386833760(-;-)

Make rs386833760(-;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15587930

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833760
dbSNP (classic)	rs386833760
ClinGen	rs386833760
ebi	rs386833760
HLI	rs386833760
Exac	rs386833760
Gnomad	rs386833760
Varsome	rs386833760
LitVar	rs386833760
Map	rs386833760
PheGenI	rs386833760
Biobank	rs386833760
1000 genomes	rs386833760
hgdp	rs386833760
ensembl	rs386833760
geneview	rs386833760
scholar	rs386833760
google	rs386833760
pharmgkb	rs386833760
gwascentral	rs386833760
openSNP	rs386833760
23andMe	rs386833760
SNPshot	rs386833760
SNPdbe	rs386833760
MSV3d	rs386833760
GWAS Ctlg	rs386833760

Merged from

Rs386833761

Max Magnitude

0

ClinVar
Risk	rs386833760(-;-)
Alt	rs386833760(-;-)
Reference	Rs386833760(G;G)
Significance	Other
Disease	Meckel syndrome type 6 Joubert syndrome 9
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6 Joubert syndrome 9
Reversed	0
HGVS	NC_000004.11:g.15589553delG
CLNSRC	ClinVar
CLNACC	RCV000049724.3, RCV000194003.2,

[PMID 19777577] CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.