rs386834260

Orientation

minus

Stabilized

minus

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

Make rs386834260(A;A)

Make rs386834260(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

211481119

Gene

RD3

is a	snp
is	mentioned by
dbSNP	rs386834260
dbSNP (classic)	rs386834260
ClinGen	rs386834260
ebi	rs386834260
HLI	rs386834260
Exac	rs386834260
Gnomad	rs386834260
Varsome	rs386834260
LitVar	rs386834260
Map	rs386834260
PheGenI	rs386834260
Biobank	rs386834260
1000 genomes	rs386834260
hgdp	rs386834260
ensembl	rs386834260
geneview	rs386834260
scholar	rs386834260
google	rs386834260
pharmgkb	rs386834260
gwascentral	rs386834260
openSNP	rs386834260
23andMe	rs386834260
SNPshot	rs386834260
SNPdbe	rs386834260
MSV3d	rs386834260
GWAS Ctlg	rs386834260

Max Magnitude

0

ClinVar
Risk	rs386834260(A;A)
Alt	rs386834260(A;A)
Reference	Rs386834260(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 12
Variation	info
Gene	RD3
CLNDBN	Leber congenital amaurosis 12
Reversed	1
HGVS	NC_000001.10:g.211654461C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014001.19,