rs386834156

Orientation

minus

Stabilized

minus

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

Make rs386834156(AG;T)

Make rs386834156(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88136702

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834156
dbSNP (classic)	rs386834156
ClinGen	rs386834156
ebi	rs386834156
HLI	rs386834156
Exac	rs386834156
Gnomad	rs386834156
Varsome	rs386834156
LitVar	rs386834156
Map	rs386834156
PheGenI	rs386834156
Biobank	rs386834156
1000 genomes	rs386834156
hgdp	rs386834156
ensembl	rs386834156
geneview	rs386834156
scholar	rs386834156
google	rs386834156
pharmgkb	rs386834156
gwascentral	rs386834156
openSNP	rs386834156
23andMe	rs386834156
SNPshot	rs386834156
SNPdbe	rs386834156
MSV3d	rs386834156
GWAS Ctlg	rs386834156

Max Magnitude

0

ClinVar
Risk	rs386834156(T;T)
Alt	rs386834156(T;T)
Reference	Rs386834156(AG;AG)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88530479_88530480delCTinsA
CLNSRC	ClinVar
CLNACC	RCV000050150.1,

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