rs386833763

Orientation

plus

Stabilized

plus

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

Make rs386833763(C;T)

Make rs386833763(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15510217

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833763
dbSNP (classic)	rs386833763
ClinGen	rs386833763
ebi	rs386833763
HLI	rs386833763
Exac	rs386833763
Gnomad	rs386833763
Varsome	rs386833763
LitVar	rs386833763
Map	rs386833763
PheGenI	rs386833763
Biobank	rs386833763
1000 genomes	rs386833763
hgdp	rs386833763
ensembl	rs386833763
geneview	rs386833763
scholar	rs386833763
google	rs386833763
pharmgkb	rs386833763
gwascentral	rs386833763
openSNP	rs386833763
23andMe	rs386833763
SNPshot	rs386833763
SNPdbe	rs386833763
MSV3d	rs386833763
GWAS Ctlg	rs386833763

Max Magnitude

0

ClinVar
Risk	rs386833763(T;T)
Alt	rs386833763(T;T)
Reference	Rs386833763(C;C)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 6
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6
Reversed	0
HGVS	NC_000004.11:g.15511840C>T
CLNSRC	ClinVar
CLNACC	RCV000049727.1,

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