rs398123693

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AACTCCACCGCGGCGGCGGC;AACTCCACCGCGGCGGCGGC)	0	common in clinvar
(GCGGCGGCGGCAACTCCACC;GCGGCGGCGGCAACTCCACC)	0	common in clinvar

Make rs398123693(-;-)

Make rs398123693(-;AACTCCACCGCGGCGGCGGC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712430

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs398123693
dbSNP (classic)	rs398123693
ClinGen	rs398123693
ebi	rs398123693
HLI	rs398123693
Exac	rs398123693
Gnomad	rs398123693
Varsome	rs398123693
LitVar	rs398123693
Map	rs398123693
PheGenI	rs398123693
Biobank	rs398123693
1000 genomes	rs398123693
hgdp	rs398123693
ensembl	rs398123693
geneview	rs398123693
scholar	rs398123693
google	rs398123693
pharmgkb	rs398123693
gwascentral	rs398123693
openSNP	rs398123693
23andMe	rs398123693
SNPshot	rs398123693
SNPdbe	rs398123693
MSV3d	rs398123693
GWAS Ctlg	rs398123693

Max Magnitude

0

ClinVar
Risk	rs398123693(-;-)
Alt	rs398123693(-;-)
Reference	Rs398123693(GCGGCGGCGGCAACTCCACC;GCGGCGGCGGCAACTCCACC)
Significance	Pathogenic
Disease	not provided Microphthalmia syndromic 3
Variation	info
Gene	SOX2-OT SOX2
CLNDBN	not provided Microphthalmia syndromic 3
Reversed	0
HGVS	NC_000003.11:g.181430218_181430237del20
CLNSRC	HGMD
CLNACC	RCV000080064.4, RCV000359617.1,