rs104893804

Orientation

plus

Stabilized

plus

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

Make rs104893804(C;T)

Make rs104893804(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712523

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893804
dbSNP (classic)	rs104893804
ClinGen	rs104893804
ebi	rs104893804
HLI	rs104893804
Exac	rs104893804
Gnomad	rs104893804
Varsome	rs104893804
LitVar	rs104893804
Map	rs104893804
PheGenI	rs104893804
Biobank	rs104893804
1000 genomes	rs104893804
hgdp	rs104893804
ensembl	rs104893804
geneview	rs104893804
scholar	rs104893804
google	rs104893804
pharmgkb	rs104893804
gwascentral	rs104893804
openSNP	rs104893804
23andMe	rs104893804
SNPshot	rs104893804
SNPdbe	rs104893804
MSV3d	rs104893804
GWAS Ctlg	rs104893804

Max Magnitude

0

OMIM	184429
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104893804(T;T)
Alt	rs104893804(T;T)
Reference	Rs104893804(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.181430311C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013668.22,