rs386833755

plus

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

Make rs386833755(C;C)

Make rs386833755(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

15570446

Gene

CC2D2A

is a	snp
is	mentioned by
dbSNP	rs386833755
dbSNP (classic)	rs386833755
ClinGen	rs386833755
ebi	rs386833755
HLI	rs386833755
Exac	rs386833755
Gnomad	rs386833755
Varsome	rs386833755
LitVar	rs386833755
Map	rs386833755
PheGenI	rs386833755
Biobank	rs386833755
1000 genomes	rs386833755
hgdp	rs386833755
ensembl	rs386833755
geneview	rs386833755
scholar	rs386833755
google	rs386833755
pharmgkb	rs386833755
gwascentral	rs386833755
openSNP	rs386833755
23andMe	rs386833755
SNPshot	rs386833755
SNPdbe	rs386833755
MSV3d	rs386833755
GWAS Ctlg	rs386833755

Max Magnitude

0

ClinVar
Risk	rs386833755(C;C)
Alt	rs386833755(C;C)
Reference	Rs386833755(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.15572069T>C
CLNSRC	ClinVar
CLNACC	RCV000049719.1,

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