rs137852834

Orientation

minus

Stabilized

minus

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

Make rs137852834(A;T)

Make rs137852834(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88083936

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs137852834
dbSNP (classic)	rs137852834
ClinGen	rs137852834
ebi	rs137852834
HLI	rs137852834
Exac	rs137852834
Gnomad	rs137852834
Varsome	rs137852834
LitVar	rs137852834
Map	rs137852834
PheGenI	rs137852834
Biobank	rs137852834
1000 genomes	rs137852834
hgdp	rs137852834
ensembl	rs137852834
geneview	rs137852834
scholar	rs137852834
google	rs137852834
pharmgkb	rs137852834
gwascentral	rs137852834
openSNP	rs137852834
23andMe	rs137852834
SNPshot	rs137852834
SNPdbe	rs137852834
MSV3d	rs137852834
GWAS Ctlg	rs137852834

Max Magnitude

0

OMIM	610142
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852834(T;T)
Alt	rs137852834(T;T)
Reference	Rs137852834(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 5 Leber congenital amaurosis 10 Central hypotonia Molar tooth sign on MRI Nystagmus Blindness not provided
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5 Leber congenital amaurosis 10 Central hypotonia Molar tooth sign on MRI Nystagmus Blindness not provided
Reversed	1
HGVS	NC_000012.11:g.88477713T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001402.3, RCV000001403.2, RCV000415120.1, RCV000415219.1, RCV000484693.1,