rs386834148

Orientation

minus

Stabilized

minus

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

Make rs386834148(-;-)

Make rs386834148(-;AT)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88121136

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834148
dbSNP (classic)	rs386834148
ClinGen	rs386834148
ebi	rs386834148
HLI	rs386834148
Exac	rs386834148
Gnomad	rs386834148
Varsome	rs386834148
LitVar	rs386834148
Map	rs386834148
PheGenI	rs386834148
Biobank	rs386834148
1000 genomes	rs386834148
hgdp	rs386834148
ensembl	rs386834148
geneview	rs386834148
scholar	rs386834148
google	rs386834148
pharmgkb	rs386834148
gwascentral	rs386834148
openSNP	rs386834148
23andMe	rs386834148
SNPshot	rs386834148
SNPdbe	rs386834148
MSV3d	rs386834148
GWAS Ctlg	rs386834148

Max Magnitude

0

ClinVar
Risk	rs386834148(-;-)
Alt	rs386834148(-;-)
Reference	Rs386834148(AT;AT)
Significance	Pathogenic
Disease	Meckel syndrome type 4 Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4 Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88514913_88514914delAT
CLNSRC	ClinVar
CLNACC	RCV000050142.1, RCV000201718.1,

[PMID 17564974] Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

[PMID 19466712] Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?