rs1057518822

Orientation

minus

Stabilized

minus

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

Make rs1057518822(C;T)

Make rs1057518822(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88102888

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs1057518822
dbSNP (classic)	rs1057518822
ClinGen	rs1057518822
ebi	rs1057518822
HLI	rs1057518822
Exac	rs1057518822
Gnomad	rs1057518822
Varsome	rs1057518822
LitVar	rs1057518822
Map	rs1057518822
PheGenI	rs1057518822
Biobank	rs1057518822
1000 genomes	rs1057518822
hgdp	rs1057518822
ensembl	rs1057518822
geneview	rs1057518822
scholar	rs1057518822
google	rs1057518822
pharmgkb	rs1057518822
gwascentral	rs1057518822
openSNP	rs1057518822
23andMe	rs1057518822
SNPshot	rs1057518822
SNPdbe	rs1057518822
MSV3d	rs1057518822
GWAS Ctlg	rs1057518822

Max Magnitude

0

ClinVar
Risk	rs1057518822(T;T)
Alt	rs1057518822(T;T)
Reference	Rs1057518822(C;C)
Significance	Pathogenic
Disease	Central hypotonia Molar tooth sign on MRI Nystagmus Blindness
Variation	info
Gene	CEP290
CLNDBN	Central hypotonia Molar tooth sign on MRI Nystagmus Blindness
Reversed	1
HGVS	NC_000012.11:g.88496665G>A
CLNSRC
CLNACC	RCV000414899.1, RCV000415004.1,