rs386833749

Orientation

plus

Stabilized

plus

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

Make rs386833749(-;-)

Make rs386833749(-;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15563424

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833749
dbSNP (classic)	rs386833749
ClinGen	rs386833749
ebi	rs386833749
HLI	rs386833749
Exac	rs386833749
Gnomad	rs386833749
Varsome	rs386833749
LitVar	rs386833749
Map	rs386833749
PheGenI	rs386833749
Biobank	rs386833749
1000 genomes	rs386833749
hgdp	rs386833749
ensembl	rs386833749
geneview	rs386833749
scholar	rs386833749
google	rs386833749
pharmgkb	rs386833749
gwascentral	rs386833749
openSNP	rs386833749
23andMe	rs386833749
SNPshot	rs386833749
SNPdbe	rs386833749
MSV3d	rs386833749
GWAS Ctlg	rs386833749

Max Magnitude

0

ClinVar
Risk	rs386833749(-;-)
Alt	rs386833749(-;-)
Reference	Rs386833749(G;G)
Significance	Pathogenic
Disease	Meckel syndrome type 6 not provided
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6 not provided
Reversed	0
HGVS	NC_000004.11:g.15565047delG
CLNSRC	ClinVar
CLNACC	RCV000049713.1, RCV000294687.1,

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

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