rs386834154

Orientation

minus

Stabilized

minus

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

Make rs386834154(-;-)

Make rs386834154(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88093904

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834154
dbSNP (classic)	rs386834154
ClinGen	rs386834154
ebi	rs386834154
HLI	rs386834154
Exac	rs386834154
Gnomad	rs386834154
Varsome	rs386834154
LitVar	rs386834154
Map	rs386834154
PheGenI	rs386834154
Biobank	rs386834154
1000 genomes	rs386834154
hgdp	rs386834154
ensembl	rs386834154
geneview	rs386834154
scholar	rs386834154
google	rs386834154
pharmgkb	rs386834154
gwascentral	rs386834154
openSNP	rs386834154
23andMe	rs386834154
SNPshot	rs386834154
SNPdbe	rs386834154
MSV3d	rs386834154
GWAS Ctlg	rs386834154

Max Magnitude

0

ClinVar
Risk	rs386834154(-;-)
Alt	rs386834154(-;-)
Reference	Rs386834154(A;A)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88487681delT
CLNSRC	ClinVar
CLNACC	RCV000050148.1,

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