rs62635288

Orientation

minus

Stabilized

minus

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

Make rs62635288(G;T)

Make rs62635288(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88141287

Gene	CEP290, TMTC3

is a	snp
is	mentioned by
dbSNP	rs62635288
dbSNP (classic)	rs62635288
ClinGen	rs62635288
ebi	rs62635288
HLI	rs62635288
Exac	rs62635288
Gnomad	rs62635288
Varsome	rs62635288
LitVar	rs62635288
Map	rs62635288
PheGenI	rs62635288
Biobank	rs62635288
1000 genomes	rs62635288
hgdp	rs62635288
ensembl	rs62635288
geneview	rs62635288
scholar	rs62635288
google	rs62635288
pharmgkb	rs62635288
gwascentral	rs62635288
openSNP	rs62635288
23andMe	rs62635288
SNPshot	rs62635288
SNPdbe	rs62635288
MSV3d	rs62635288
GWAS Ctlg	rs62635288

Max Magnitude

0

OMIM	610142
Desc
Variant	0003
Related	also

ClinVar
Risk	rs62635288(T;T)
Alt	rs62635288(T;T)
Reference	Rs62635288(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5 not provided
Variation	info
Gene	CEP290 TMTC3
CLNDBN	Joubert syndrome 5 not provided
Reversed	1
HGVS	NC_000012.11:g.88535064C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001398.3, RCV000086283.1,