rs386833754

Orientation

plus

Stabilized

plus

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

Make rs386833754(-;TG)

Make rs386833754(TG;TG)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15570424

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833754
dbSNP (classic)	rs386833754
ClinGen	rs386833754
ebi	rs386833754
HLI	rs386833754
Exac	rs386833754
Gnomad	rs386833754
Varsome	rs386833754
LitVar	rs386833754
Map	rs386833754
PheGenI	rs386833754
Biobank	rs386833754
1000 genomes	rs386833754
hgdp	rs386833754
ensembl	rs386833754
geneview	rs386833754
scholar	rs386833754
google	rs386833754
pharmgkb	rs386833754
gwascentral	rs386833754
openSNP	rs386833754
23andMe	rs386833754
SNPshot	rs386833754
SNPdbe	rs386833754
MSV3d	rs386833754
GWAS Ctlg	rs386833754

Max Magnitude

0

ClinVar
Risk	rs386833754(TG;TG)
Alt	rs386833754(TG;TG)
Reference	Rs386833754(-;-)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 6
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6
Reversed	0
HGVS	NC_000004.11:g.15572047_15572048insTG
CLNSRC	ClinVar
CLNACC	RCV000049718.1,

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