rs552184470

Orientation

plus

Stabilized

plus

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

Make rs552184470(-;-)

Make rs552184470(-;CTGCTT)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

8003171

Gene

GUCY2D

is a	snp
is	mentioned by
dbSNP	rs552184470
dbSNP (classic)	rs552184470
ClinGen	rs552184470
ebi	rs552184470
HLI	rs552184470
Exac	rs552184470
Gnomad	rs552184470
Varsome	rs552184470
LitVar	rs552184470
Map	rs552184470
PheGenI	rs552184470
Biobank	rs552184470
1000 genomes	rs552184470
hgdp	rs552184470
ensembl	rs552184470
geneview	rs552184470
scholar	rs552184470
google	rs552184470
pharmgkb	rs552184470
gwascentral	rs552184470
openSNP	rs552184470
23andMe	rs552184470
SNPshot	rs552184470
SNPdbe	rs552184470
MSV3d	rs552184470
GWAS Ctlg	rs552184470

Max Magnitude

0

ClinVar
Risk	rs552184470(-;-)
Alt	rs552184470(-;-)
Reference	Rs552184470(CTGCTT;CTGCTT)
Significance	Probable-Pathogenic
Disease	Leber congenital amaurosis 1 Abnormal electroretinogram Nystagmus not provided not specified
Variation	info
Gene	GUCY2D
CLNDBN	Leber congenital amaurosis 1 Abnormal electroretinogram Nystagmus not provided not specified
Reversed	0
HGVS	NC_000017.10:g.7906494_7906499delTCTGCT
CLNSRC
CLNACC	RCV000401087.1, RCV000414862.1, RCV000415795.1, RCV000489672.1,