rs397514463

Orientation

minus

Stabilized

minus

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

Make rs397514463(G;T)

Make rs397514463(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

56802043

Gene

OTX2

is a	snp
is	mentioned by
dbSNP	rs397514463
dbSNP (classic)	rs397514463
ClinGen	rs397514463
ebi	rs397514463
HLI	rs397514463
Exac	rs397514463
Gnomad	rs397514463
Varsome	rs397514463
LitVar	rs397514463
Map	rs397514463
PheGenI	rs397514463
Biobank	rs397514463
1000 genomes	rs397514463
hgdp	rs397514463
ensembl	rs397514463
geneview	rs397514463
scholar	rs397514463
google	rs397514463
pharmgkb	rs397514463
gwascentral	rs397514463
openSNP	rs397514463
23andMe	rs397514463
SNPshot	rs397514463
SNPdbe	rs397514463
MSV3d	rs397514463
GWAS Ctlg	rs397514463

Max Magnitude

0

ClinVar
Risk	rs397514463(T;T)
Alt	rs397514463(T;T)
Reference	Rs397514463(G;G)
Significance	Pathogenic
Disease	Microphthalmia syndromic 5
Variation	info
Gene	OTX2
CLNDBN	Microphthalmia syndromic 5
Reversed	1
HGVS	NC_000014.8:g.57268761C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022927.3,