rs386833756

Orientation

plus

Stabilized

plus

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

Make rs386833756(-;-)

Make rs386833756(-;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15570486

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833756
dbSNP (classic)	rs386833756
ClinGen	rs386833756
ebi	rs386833756
HLI	rs386833756
Exac	rs386833756
Gnomad	rs386833756
Varsome	rs386833756
LitVar	rs386833756
Map	rs386833756
PheGenI	rs386833756
Biobank	rs386833756
1000 genomes	rs386833756
hgdp	rs386833756
ensembl	rs386833756
geneview	rs386833756
scholar	rs386833756
google	rs386833756
pharmgkb	rs386833756
gwascentral	rs386833756
openSNP	rs386833756
23andMe	rs386833756
SNPshot	rs386833756
SNPdbe	rs386833756
MSV3d	rs386833756
GWAS Ctlg	rs386833756

Max Magnitude

0

ClinVar
Risk	rs386833756(-;-)
Alt	rs386833756(-;-)
Reference	Rs386833756(T;T)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 6
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6
Reversed	0
HGVS	NC_000004.11:g.15572109delT
CLNSRC	ClinVar
CLNACC	RCV000049720.1,

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