rs386834155

Orientation

minus

Stabilized

minus

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

Make rs386834155(-;-)

Make rs386834155(-;AA)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88092695

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs386834155
dbSNP (classic)	rs386834155
ClinGen	rs386834155
ebi	rs386834155
HLI	rs386834155
Exac	rs386834155
Gnomad	rs386834155
Varsome	rs386834155
LitVar	rs386834155
Map	rs386834155
PheGenI	rs386834155
Biobank	rs386834155
1000 genomes	rs386834155
hgdp	rs386834155
ensembl	rs386834155
geneview	rs386834155
scholar	rs386834155
google	rs386834155
pharmgkb	rs386834155
gwascentral	rs386834155
openSNP	rs386834155
23andMe	rs386834155
SNPshot	rs386834155
SNPdbe	rs386834155
MSV3d	rs386834155
GWAS Ctlg	rs386834155

Max Magnitude

0

ClinVar
Risk	rs386834155(-;-)
Alt	rs386834155(-;-)
Reference	Rs386834155(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.88486472_88486473delTT
CLNSRC	ClinVar
CLNACC	RCV000050149.1,

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