rs386834252

Orientation

minus

Stabilized

minus

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

Make rs386834252(-;-)

Make rs386834252(-;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

79489164

Gene	LCA5, LOC100506851

is a	snp
is	mentioned by
dbSNP	rs386834252
dbSNP (classic)	rs386834252
ClinGen	rs386834252
ebi	rs386834252
HLI	rs386834252
Exac	rs386834252
Gnomad	rs386834252
Varsome	rs386834252
LitVar	rs386834252
Map	rs386834252
PheGenI	rs386834252
Biobank	rs386834252
1000 genomes	rs386834252
hgdp	rs386834252
ensembl	rs386834252
geneview	rs386834252
scholar	rs386834252
google	rs386834252
pharmgkb	rs386834252
gwascentral	rs386834252
openSNP	rs386834252
23andMe	rs386834252
SNPshot	rs386834252
SNPdbe	rs386834252
MSV3d	rs386834252
GWAS Ctlg	rs386834252

Max Magnitude

0

ClinVar
Risk	rs386834252(-;-)
Alt	rs386834252(-;-)
Reference	Rs386834252(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 5
Variation	info
Gene	LCA5
CLNDBN	Leber congenital amaurosis 5
Reversed	1
HGVS	NC_000006.11:g.80198881delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001017.3,