rs386833757

plus

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

Make rs386833757(-;T)

Make rs386833757(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15579970

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833757
dbSNP (classic)	rs386833757
ClinGen	rs386833757
ebi	rs386833757
HLI	rs386833757
Exac	rs386833757
Gnomad	rs386833757
Varsome	rs386833757
LitVar	rs386833757
Map	rs386833757
PheGenI	rs386833757
Biobank	rs386833757
1000 genomes	rs386833757
hgdp	rs386833757
ensembl	rs386833757
geneview	rs386833757
scholar	rs386833757
google	rs386833757
pharmgkb	rs386833757
gwascentral	rs386833757
openSNP	rs386833757
23andMe	rs386833757
SNPshot	rs386833757
SNPdbe	rs386833757
MSV3d	rs386833757
GWAS Ctlg	rs386833757

Max Magnitude

0

ClinVar
Risk	rs386833757(T;T)
Alt	rs386833757(T;T)
Reference	Rs386833757(-;-)
Significance	Pathogenic
Disease	Meckel syndrome type 6 Joubert syndrome 9 not provided
Variation	info
Gene	CC2D2A
CLNDBN	Meckel syndrome type 6 Joubert syndrome 9 not provided
Reversed	0
HGVS	NC_000004.11:g.15581593dupT
CLNSRC	ClinVar
CLNACC	RCV000049721.1, RCV000201709.1, RCV000373656.1,

[PMID 21068128 ] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.