rs1057518922

Orientation

minus

Stabilized

minus

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

Make rs1057518922(A;A)

Make rs1057518922(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

68431281

Gene

RPE65

is a	snp
is	mentioned by
dbSNP	rs1057518922
dbSNP (classic)	rs1057518922
ClinGen	rs1057518922
ebi	rs1057518922
HLI	rs1057518922
Exac	rs1057518922
Gnomad	rs1057518922
Varsome	rs1057518922
LitVar	rs1057518922
Map	rs1057518922
PheGenI	rs1057518922
Biobank	rs1057518922
1000 genomes	rs1057518922
hgdp	rs1057518922
ensembl	rs1057518922
geneview	rs1057518922
scholar	rs1057518922
google	rs1057518922
pharmgkb	rs1057518922
gwascentral	rs1057518922
openSNP	rs1057518922
23andMe	rs1057518922
SNPshot	rs1057518922
SNPdbe	rs1057518922
MSV3d	rs1057518922
GWAS Ctlg	rs1057518922

Max Magnitude

0

ClinVar
Risk	rs1057518922(A;A)
Alt	rs1057518922(A;A)
Reference	Rs1057518922(G;G)
Significance	Pathogenic
Disease	Abnormal electroretinogram Abnormality of vision Congenital blindness Retinal degeneration
Variation	info
Gene	RPE65
CLNDBN	Abnormal electroretinogram Abnormality of vision Congenital blindness Retinal degeneration
Reversed	1
HGVS	NC_000001.10:g.68896964C>T
CLNSRC
CLNACC	RCV000415360.1,