rs386833765

Orientation

plus

Stabilized

plus

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

Make rs386833765(-;-)

Make rs386833765(-;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15514823

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833765
dbSNP (classic)	rs386833765
ClinGen	rs386833765
ebi	rs386833765
HLI	rs386833765
Exac	rs386833765
Gnomad	rs386833765
Varsome	rs386833765
LitVar	rs386833765
Map	rs386833765
PheGenI	rs386833765
Biobank	rs386833765
1000 genomes	rs386833765
hgdp	rs386833765
ensembl	rs386833765
geneview	rs386833765
scholar	rs386833765
google	rs386833765
pharmgkb	rs386833765
gwascentral	rs386833765
openSNP	rs386833765
23andMe	rs386833765
SNPshot	rs386833765
SNPdbe	rs386833765
MSV3d	rs386833765
GWAS Ctlg	rs386833765

Max Magnitude

0

ClinVar
Risk	rs386833765(-;-)
Alt	rs386833765(-;-)
Reference	Rs386833765(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.15516446delG
CLNSRC	ClinVar
CLNACC	RCV000049729.1, RCV000371795.1,

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