rs121917745

Orientation

minus

Stabilized

minus

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

Make rs121917745(C;T)

Make rs121917745(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

68429835

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs121917745
dbSNP (classic)	rs121917745
ClinGen	rs121917745
ebi	rs121917745
HLI	rs121917745
Exac	rs121917745
Gnomad	rs121917745
Varsome	rs121917745
LitVar	rs121917745
Map	rs121917745
PheGenI	rs121917745
Biobank	rs121917745
1000 genomes	rs121917745
hgdp	rs121917745
ensembl	rs121917745
geneview	rs121917745
scholar	rs121917745
google	rs121917745
pharmgkb	rs121917745
gwascentral	rs121917745
openSNP	rs121917745
23andMe	rs121917745
SNPshot	rs121917745
SNPdbe	rs121917745
MSV3d	rs121917745
GWAS Ctlg	rs121917745

Max Magnitude

0

OMIM	180069
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121917745(T;T)
Alt	rs121917745(T;T)
Reference	Rs121917745(C;C)
Significance	Pathogenic
Disease	Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided Retinitis pigmentosa
Variation	info
Gene	RPE65
CLNDBN	Retinitis pigmentosa 20 Leber congenital amaurosis 2 not provided Retinitis pigmentosa
Reversed	1
HGVS	NC_000001.10:g.68895518G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013999.24, RCV000014000.24, RCV000085176.1, RCV000132583.1,