rs62636300

Orientation

minus

Stabilized

minus

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

Make rs62636300(A;G)

Make rs62636300(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

68431328

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs62636300
dbSNP (classic)	rs62636300
ClinGen	rs62636300
ebi	rs62636300
HLI	rs62636300
Exac	rs62636300
Gnomad	rs62636300
Varsome	rs62636300
LitVar	rs62636300
Map	rs62636300
PheGenI	rs62636300
Biobank	rs62636300
1000 genomes	rs62636300
hgdp	rs62636300
ensembl	rs62636300
geneview	rs62636300
scholar	rs62636300
google	rs62636300
pharmgkb	rs62636300
gwascentral	rs62636300
openSNP	rs62636300
23andMe	rs62636300
SNPshot	rs62636300
SNPdbe	rs62636300
MSV3d	rs62636300
GWAS Ctlg	rs62636300

Max Magnitude

0

ClinVar
Risk	rs62636300(G;G)
Alt	rs62636300(G;G)
Reference	Rs62636300(A;A)
Significance	Pathogenic
Disease	Leber congenital amaurosis 2 not provided
Variation	info
Gene	RPE65
CLNDBN	Leber congenital amaurosis 2 not provided
Reversed	1
HGVS	NC_000001.10:g.68897011T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022754.18, RCV000085161.1,