rs386834239

Orientation

plus

Stabilized

plus

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

Make rs386834239(-;ACCA)

Make rs386834239(ACCA;ACCA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8016454

Gene

GUCY2D

is a	snp
is	mentioned by
dbSNP	rs386834239
dbSNP (classic)	rs386834239
ClinGen	rs386834239
ebi	rs386834239
HLI	rs386834239
Exac	rs386834239
Gnomad	rs386834239
Varsome	rs386834239
LitVar	rs386834239
Map	rs386834239
PheGenI	rs386834239
Biobank	rs386834239
1000 genomes	rs386834239
hgdp	rs386834239
ensembl	rs386834239
geneview	rs386834239
scholar	rs386834239
google	rs386834239
pharmgkb	rs386834239
gwascentral	rs386834239
openSNP	rs386834239
23andMe	rs386834239
SNPshot	rs386834239
SNPdbe	rs386834239
MSV3d	rs386834239
GWAS Ctlg	rs386834239

Max Magnitude

0

ClinVar
Risk	rs386834239(CAAC;CAAC)
Alt	rs386834239(CAAC;CAAC)
Reference	Rs386834239(-;-)
Significance	Pathogenic
Disease	Leber congenital amaurosis 1
Variation	info
Gene	GUCY2D
CLNDBN	Leber congenital amaurosis 1
Reversed	0
HGVS	NC_000017.10:g.7919769_7919772dupACCA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055776.1,