rs386834253

Orientation

minus

Stabilized

minus

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

Make rs386834253(-;A)

Make rs386834253(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

79487621

Gene	LCA5, LOC100506851

is a	snp
is	mentioned by
dbSNP	rs386834253
dbSNP (classic)	rs386834253
ClinGen	rs386834253
ebi	rs386834253
HLI	rs386834253
Exac	rs386834253
Gnomad	rs386834253
Varsome	rs386834253
LitVar	rs386834253
Map	rs386834253
PheGenI	rs386834253
Biobank	rs386834253
1000 genomes	rs386834253
hgdp	rs386834253
ensembl	rs386834253
geneview	rs386834253
scholar	rs386834253
google	rs386834253
pharmgkb	rs386834253
gwascentral	rs386834253
openSNP	rs386834253
23andMe	rs386834253
SNPshot	rs386834253
SNPdbe	rs386834253
MSV3d	rs386834253
GWAS Ctlg	rs386834253

Max Magnitude

0

ClinVar
Risk	rs386834253(A;A)
Alt	rs386834253(A;A)
Reference	Rs386834253(-;-)
Significance	Pathogenic
Disease	Leber congenital amaurosis 5
Variation	info
Gene	LCA5
CLNDBN	Leber congenital amaurosis 5
Reversed	1
HGVS	NC_000006.11:g.80197339dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001018.3,