rs386834153

Orientation

minus

Stabilized

minus

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

Make rs386834153(G;T)

Make rs386834153(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88139153

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834153
dbSNP (classic)	rs386834153
ClinGen	rs386834153
ebi	rs386834153
HLI	rs386834153
Exac	rs386834153
Gnomad	rs386834153
Varsome	rs386834153
LitVar	rs386834153
Map	rs386834153
PheGenI	rs386834153
Biobank	rs386834153
1000 genomes	rs386834153
hgdp	rs386834153
ensembl	rs386834153
geneview	rs386834153
scholar	rs386834153
google	rs386834153
pharmgkb	rs386834153
gwascentral	rs386834153
openSNP	rs386834153
23andMe	rs386834153
SNPshot	rs386834153
SNPdbe	rs386834153
MSV3d	rs386834153
GWAS Ctlg	rs386834153

Max Magnitude

0

ClinVar
Risk	rs386834153(T;T)
Alt	rs386834153(T;T)
Reference	Rs386834153(G;G)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 4
Variation	info
Gene	CEP290
CLNDBN	Meckel syndrome type 4
Reversed	1
HGVS	NC_000012.11:g.88532930C>A
CLNSRC	ClinVar
CLNACC	RCV000050147.1,

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