rs386834151

Orientation

minus

Stabilized

minus

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

Make rs386834151(-;-)

Make rs386834151(-;AA)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88115146

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834151
dbSNP (classic)	rs386834151
ClinGen	rs386834151
ebi	rs386834151
HLI	rs386834151
Exac	rs386834151
Gnomad	rs386834151
Varsome	rs386834151
LitVar	rs386834151
Map	rs386834151
PheGenI	rs386834151
Biobank	rs386834151
1000 genomes	rs386834151
hgdp	rs386834151
ensembl	rs386834151
geneview	rs386834151
scholar	rs386834151
google	rs386834151
pharmgkb	rs386834151
gwascentral	rs386834151
openSNP	rs386834151
23andMe	rs386834151
SNPshot	rs386834151
SNPdbe	rs386834151
MSV3d	rs386834151
GWAS Ctlg	rs386834151

Max Magnitude

0

ClinVar
Risk	rs386834151(-;-)
Alt	rs386834151(-;-)
Reference	Rs386834151(AA;AA)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88508923_88508924delTT
CLNSRC	ClinVar
CLNACC	RCV000050145.1,

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