rs794727952

Orientation

plus

Stabilized

plus

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

Make rs794727952(-;-)

Make rs794727952(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

8012167

Gene

GUCY2D

is a	snp
is	mentioned by
dbSNP	rs794727952
dbSNP (classic)	rs794727952
ClinGen	rs794727952
ebi	rs794727952
HLI	rs794727952
Exac	rs794727952
Gnomad	rs794727952
Varsome	rs794727952
LitVar	rs794727952
Map	rs794727952
PheGenI	rs794727952
Biobank	rs794727952
1000 genomes	rs794727952
hgdp	rs794727952
ensembl	rs794727952
geneview	rs794727952
scholar	rs794727952
google	rs794727952
pharmgkb	rs794727952
gwascentral	rs794727952
openSNP	rs794727952
23andMe	rs794727952
SNPshot	rs794727952
SNPdbe	rs794727952
MSV3d	rs794727952
GWAS Ctlg	rs794727952

Max Magnitude

0

ClinVar
Risk	rs794727952(-;-)
Alt	rs794727952(-;-)
Reference	Rs794727952(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 1 Cone-rod dystrophy 6
Variation	info
Gene	GUCY2D
CLNDBN	Leber congenital amaurosis 1 Cone-rod dystrophy 6
Reversed	0
HGVS	NC_000017.10:g.7915485delC
CLNSRC
CLNACC	RCV000180468.1, RCV000180469.1,