rs386833761

Merged into

rs386833760

Orientation

plus

Stabilized

plus

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

Make rs386833761(-;-)

Make rs386833761(-;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15587929

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833761
dbSNP (classic)	rs386833761
ClinGen	rs386833761
ebi	rs386833761
HLI	rs386833761
Exac	rs386833761
Gnomad	rs386833761
Varsome	rs386833761
LitVar	rs386833761
Map	rs386833761
PheGenI	rs386833761
Biobank	rs386833761
1000 genomes	rs386833761
hgdp	rs386833761
ensembl	rs386833761
geneview	rs386833761
scholar	rs386833761
google	rs386833761
pharmgkb	rs386833761
gwascentral	rs386833761
openSNP	rs386833761
23andMe	rs386833761
SNPshot	rs386833761
SNPdbe	rs386833761
MSV3d	rs386833761
GWAS Ctlg	rs386833761

Status

Merged into rs386833760

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs386833761(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.15589553delG
CLNSRC	ClinVar
CLNACC	RCV000049724.2, RCV000194003.2,

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