rs386833762

Orientation

plus

Stabilized

plus

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

Make rs386833762(A;A)

Make rs386833762(A;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15597467

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833762
dbSNP (classic)	rs386833762
ClinGen	rs386833762
ebi	rs386833762
HLI	rs386833762
Exac	rs386833762
Gnomad	rs386833762
Varsome	rs386833762
LitVar	rs386833762
Map	rs386833762
PheGenI	rs386833762
Biobank	rs386833762
1000 genomes	rs386833762
hgdp	rs386833762
ensembl	rs386833762
geneview	rs386833762
scholar	rs386833762
google	rs386833762
pharmgkb	rs386833762
gwascentral	rs386833762
openSNP	rs386833762
23andMe	rs386833762
SNPshot	rs386833762
SNPdbe	rs386833762
MSV3d	rs386833762
GWAS Ctlg	rs386833762

Max Magnitude

0

ClinVar
Risk	rs386833762(A;A) rs386833762(C;C)
Alt	rs386833762(A;A) rs386833762(C;C)
Reference	Rs386833762(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.15599090T>A
CLNSRC	ClinVar
CLNACC	RCV000049726.1,

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