rs104894465

Orientation

minus

Stabilized

minus

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

Make rs104894465(A;A)

Make rs104894465(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

56802068

Gene

OTX2

is a	snp
is	mentioned by
dbSNP	rs104894465
dbSNP (classic)	rs104894465
ClinGen	rs104894465
ebi	rs104894465
HLI	rs104894465
Exac	rs104894465
Gnomad	rs104894465
Varsome	rs104894465
LitVar	rs104894465
Map	rs104894465
PheGenI	rs104894465
Biobank	rs104894465
1000 genomes	rs104894465
hgdp	rs104894465
ensembl	rs104894465
geneview	rs104894465
scholar	rs104894465
google	rs104894465
pharmgkb	rs104894465
gwascentral	rs104894465
openSNP	rs104894465
23andMe	rs104894465
SNPshot	rs104894465
SNPdbe	rs104894465
MSV3d	rs104894465
GWAS Ctlg	rs104894465

Max Magnitude

0

OMIM	600037
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894465(A;A) rs104894465(C;C)
Alt	rs104894465(A;A) rs104894465(C;C)
Reference	Rs104894465(T;T)
Significance	Pathogenic
Disease	Microphthalmia syndromic 5
Variation	info
Gene	OTX2
CLNDBN	Microphthalmia syndromic 5
Reversed	1
HGVS	NC_000014.8:g.57268786A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010126.4,