rs104893803

Orientation

plus

Stabilized

plus

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

Make rs104893803(C;T)

Make rs104893803(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712823

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893803
dbSNP (classic)	rs104893803
ClinGen	rs104893803
ebi	rs104893803
HLI	rs104893803
Exac	rs104893803
Gnomad	rs104893803
Varsome	rs104893803
LitVar	rs104893803
Map	rs104893803
PheGenI	rs104893803
Biobank	rs104893803
1000 genomes	rs104893803
hgdp	rs104893803
ensembl	rs104893803
geneview	rs104893803
scholar	rs104893803
google	rs104893803
pharmgkb	rs104893803
gwascentral	rs104893803
openSNP	rs104893803
23andMe	rs104893803
SNPshot	rs104893803
SNPdbe	rs104893803
MSV3d	rs104893803
GWAS Ctlg	rs104893803

Max Magnitude

0

OMIM	184429
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893803(G;G) rs104893803(T;T)
Alt	rs104893803(G;G) rs104893803(T;T)
Reference	Rs104893803(C;C)
Significance	Pathogenic
Disease	Microphthalmia syndromic 3
Variation	info
Gene	SOX2-OT SOX2
CLNDBN	Microphthalmia syndromic 3
Reversed	0
HGVS	NC_000003.11:g.181430611C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013666.23,