rs386834159

Orientation

minus

Stabilized

minus

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

Make rs386834159(-;-)

Make rs386834159(-;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88071786

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834159
dbSNP (classic)	rs386834159
ClinGen	rs386834159
ebi	rs386834159
HLI	rs386834159
Exac	rs386834159
Gnomad	rs386834159
Varsome	rs386834159
LitVar	rs386834159
Map	rs386834159
PheGenI	rs386834159
Biobank	rs386834159
1000 genomes	rs386834159
hgdp	rs386834159
ensembl	rs386834159
geneview	rs386834159
scholar	rs386834159
google	rs386834159
pharmgkb	rs386834159
gwascentral	rs386834159
openSNP	rs386834159
23andMe	rs386834159
SNPshot	rs386834159
SNPdbe	rs386834159
MSV3d	rs386834159
GWAS Ctlg	rs386834159

Max Magnitude

0

ClinVar
Risk	rs386834159(-;-)
Alt	rs386834159(-;-)
Reference	Rs386834159(T;T)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88465563delA
CLNSRC	ClinVar
CLNACC	RCV000050153.1,

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