rs114342808

Orientation

plus

Stabilized

plus

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

Make rs114342808(C;T)

Make rs114342808(T;T)

Reference

GRCh38 38.1/142

Chromosome

1

Position

197421404

Gene

CRB1

is a	snp
is	mentioned by
dbSNP	rs114342808
dbSNP (classic)	rs114342808
ClinGen	rs114342808
ebi	rs114342808
HLI	rs114342808
Exac	rs114342808
Gnomad	rs114342808
Varsome	rs114342808
LitVar	rs114342808
Map	rs114342808
PheGenI	rs114342808
Biobank	rs114342808
1000 genomes	rs114342808
hgdp	rs114342808
ensembl	rs114342808
geneview	rs114342808
scholar	rs114342808
google	rs114342808
pharmgkb	rs114342808
gwascentral	rs114342808
openSNP	rs114342808
23andMe	rs114342808
SNPshot	rs114342808
SNPdbe	rs114342808
MSV3d	rs114342808
GWAS Ctlg	rs114342808

Max Magnitude

0

ClinVar
Risk	rs114342808(T;T)
Alt	rs114342808(T;T)
Reference	Rs114342808(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 8 Retinitis pigmentosa 12
Variation	info
Gene	CRB1
CLNDBN	Leber congenital amaurosis 8 Retinitis pigmentosa 12
Reversed	0
HGVS	NC_000001.10:g.197390534C>T
CLNSRC	ClinVar
CLNACC	RCV000132698.3, RCV000179572.1,