rs104893799

Orientation

plus

Stabilized

plus

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

Make rs104893799(C;T)

Make rs104893799(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712889

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893799
dbSNP (classic)	rs104893799
ClinGen	rs104893799
ebi	rs104893799
HLI	rs104893799
Exac	rs104893799
Gnomad	rs104893799
Varsome	rs104893799
LitVar	rs104893799
Map	rs104893799
PheGenI	rs104893799
Biobank	rs104893799
1000 genomes	rs104893799
hgdp	rs104893799
ensembl	rs104893799
geneview	rs104893799
scholar	rs104893799
google	rs104893799
pharmgkb	rs104893799
gwascentral	rs104893799
openSNP	rs104893799
23andMe	rs104893799
SNPshot	rs104893799
SNPdbe	rs104893799
MSV3d	rs104893799
GWAS Ctlg	rs104893799

Max Magnitude

0

OMIM	184429
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104893799(T;T)
Alt	rs104893799(T;T)
Reference	Rs104893799(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.181430677C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013662.23,