rs886042807

Orientation

plus

Stabilized

plus

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

Chromosome

1

Position

68446805

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs886042807
dbSNP (classic)	rs886042807
ClinGen	rs886042807
ebi	rs886042807
HLI	rs886042807
Exac	rs886042807
Gnomad	rs886042807
Varsome	rs886042807
LitVar	rs886042807
Map	rs886042807
PheGenI	rs886042807
Biobank	rs886042807
1000 genomes	rs886042807
hgdp	rs886042807
ensembl	rs886042807
geneview	rs886042807
scholar	rs886042807
google	rs886042807
pharmgkb	rs886042807
gwascentral	rs886042807
openSNP	rs886042807
23andMe	rs886042807
SNPshot	rs886042807
SNPdbe	rs886042807
MSV3d	rs886042807
GWAS Ctlg	rs886042807

Max Magnitude

0

ClinVar
Risk	rs886042807(-;-)
Alt	rs886042807(-;-)
Reference	Rs886042807(AA;AA)
Significance	Pathogenic
Disease	Leber congenital amaurosis 2
Variation	info
Gene	RPE65
CLNDBN	Leber congenital amaurosis 2
Reversed	0
HGVS	NC_000001.10:g.68912488_68912489delAA
CLNSRC
CLNACC	RCV000368059.1,