rs104894464

Orientation

minus

Stabilized

minus

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

Make rs104894464(C;G)

Make rs104894464(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

56802340

Gene

OTX2

is a	snp
is	mentioned by
dbSNP	rs104894464
dbSNP (classic)	rs104894464
ClinGen	rs104894464
ebi	rs104894464
HLI	rs104894464
Exac	rs104894464
Gnomad	rs104894464
Varsome	rs104894464
LitVar	rs104894464
Map	rs104894464
PheGenI	rs104894464
Biobank	rs104894464
1000 genomes	rs104894464
hgdp	rs104894464
ensembl	rs104894464
geneview	rs104894464
scholar	rs104894464
google	rs104894464
pharmgkb	rs104894464
gwascentral	rs104894464
openSNP	rs104894464
23andMe	rs104894464
SNPshot	rs104894464
SNPdbe	rs104894464
MSV3d	rs104894464
GWAS Ctlg	rs104894464

Max Magnitude

0

OMIM	600037
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894464(G;G) rs104894464(T;T)
Alt	rs104894464(G;G) rs104894464(T;T)
Reference	Rs104894464(C;C)
Significance	Pathogenic
Disease	Microphthalmia syndromic 5
Variation	info
Gene	OTX2
CLNDBN	Microphthalmia syndromic 5
Reversed	1
HGVS	NC_000014.8:g.57269058G>A; NC_000014.8:g.57269058G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000170471.3, RCV000010124.3,