rs386833751

Orientation

plus

Stabilized

plus

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

Make rs386833751(-;-)

Make rs386833751(-;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15567677

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833751
dbSNP (classic)	rs386833751
ClinGen	rs386833751
ebi	rs386833751
HLI	rs386833751
Exac	rs386833751
Gnomad	rs386833751
Varsome	rs386833751
LitVar	rs386833751
Map	rs386833751
PheGenI	rs386833751
Biobank	rs386833751
1000 genomes	rs386833751
hgdp	rs386833751
ensembl	rs386833751
geneview	rs386833751
scholar	rs386833751
google	rs386833751
pharmgkb	rs386833751
gwascentral	rs386833751
openSNP	rs386833751
23andMe	rs386833751
SNPshot	rs386833751
SNPdbe	rs386833751
MSV3d	rs386833751
GWAS Ctlg	rs386833751

Max Magnitude

0

ClinVar
Risk	rs386833751(-;-)
Alt	rs386833751(-;-)
Reference	Rs386833751(G;G)
Significance	Pathogenic
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.15569300delG
CLNSRC	ClinVar
CLNACC	RCV000049715.1, RCV000201550.1,

[PMID 19466712] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?