rs104893802

Orientation

plus

Stabilized

plus

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

Make rs104893802(C;C)

Make rs104893802(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712650

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893802
dbSNP (classic)	rs104893802
ClinGen	rs104893802
ebi	rs104893802
HLI	rs104893802
Exac	rs104893802
Gnomad	rs104893802
Varsome	rs104893802
LitVar	rs104893802
Map	rs104893802
PheGenI	rs104893802
Biobank	rs104893802
1000 genomes	rs104893802
hgdp	rs104893802
ensembl	rs104893802
geneview	rs104893802
scholar	rs104893802
google	rs104893802
pharmgkb	rs104893802
gwascentral	rs104893802
openSNP	rs104893802
23andMe	rs104893802
SNPshot	rs104893802
SNPdbe	rs104893802
MSV3d	rs104893802
GWAS Ctlg	rs104893802

Max Magnitude

0

OMIM	184429
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893802(C;C)
Alt	rs104893802(C;C)
Reference	Rs104893802(T;T)
Significance	Pathogenic
Disease	Microphthalmia syndromic 3
Variation	info
Gene	SOX2-OT SOX2
CLNDBN	Microphthalmia syndromic 3
Reversed	0
HGVS	NC_000003.11:g.181430438T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013665.24,