rs62645748

Orientation

plus

Stabilized

plus

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

Make rs62645748(A;A)

Make rs62645748(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

197434706

Gene

CRB1

is a	snp
is	mentioned by
dbSNP	rs62645748
dbSNP (classic)	rs62645748
ClinGen	rs62645748
ebi	rs62645748
HLI	rs62645748
Exac	rs62645748
Gnomad	rs62645748
Varsome	rs62645748
LitVar	rs62645748
Map	rs62645748
PheGenI	rs62645748
Biobank	rs62645748
1000 genomes	rs62645748
hgdp	rs62645748
ensembl	rs62645748
geneview	rs62645748
scholar	rs62645748
google	rs62645748
pharmgkb	rs62645748
gwascentral	rs62645748
openSNP	rs62645748
23andMe	rs62645748
SNPshot	rs62645748
SNPdbe	rs62645748
MSV3d	rs62645748
GWAS Ctlg	rs62645748

Max Magnitude

0

ClinVar
Risk	rs62645748(A;A)
Alt	rs62645748(A;A)
Reference	Rs62645748(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided
Variation	info
Gene	CRB1
CLNDBN	Leber congenital amaurosis 8 Retinitis pigmentosa 12 not provided
Reversed	0
HGVS	NC_000001.10:g.197403836G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032814.4, RCV000032815.4, RCV000086331.1,