rs386834149

minus

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

Make rs386834149(-;-)

Make rs386834149(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88120185

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834149
dbSNP (classic)	rs386834149
ClinGen	rs386834149
ebi	rs386834149
HLI	rs386834149
Exac	rs386834149
Gnomad	rs386834149
Varsome	rs386834149
LitVar	rs386834149
Map	rs386834149
PheGenI	rs386834149
Biobank	rs386834149
1000 genomes	rs386834149
hgdp	rs386834149
ensembl	rs386834149
geneview	rs386834149
scholar	rs386834149
google	rs386834149
pharmgkb	rs386834149
gwascentral	rs386834149
openSNP	rs386834149
23andMe	rs386834149
SNPshot	rs386834149
SNPdbe	rs386834149
MSV3d	rs386834149
GWAS Ctlg	rs386834149

Max Magnitude

0

ClinVar
Risk	rs386834149(-;-)
Alt	rs386834149(-;-)
Reference	Rs386834149(A;A)
Significance	Pathogenic
Disease	Meckel syndrome type 4 Joubert syndrome
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4 Joubert syndrome
Reversed	1
HGVS	NC_000012.11:g.88513962delT
CLNSRC	ClinVar
CLNACC	RCV000050143.1, RCV000200294.1,

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