rs398122803

Orientation

plus

Stabilized

plus

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

Make rs398122803(-;GG)

Make rs398122803(GG;GG)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712419

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs398122803
dbSNP (classic)	rs398122803
ClinGen	rs398122803
ebi	rs398122803
HLI	rs398122803
Exac	rs398122803
Gnomad	rs398122803
Varsome	rs398122803
LitVar	rs398122803
Map	rs398122803
PheGenI	rs398122803
Biobank	rs398122803
1000 genomes	rs398122803
hgdp	rs398122803
ensembl	rs398122803
geneview	rs398122803
scholar	rs398122803
google	rs398122803
pharmgkb	rs398122803
gwascentral	rs398122803
openSNP	rs398122803
23andMe	rs398122803
SNPshot	rs398122803
SNPdbe	rs398122803
MSV3d	rs398122803
GWAS Ctlg	rs398122803

Max Magnitude

0

ClinVar
Risk	rs398122803(G;G) rs398122803(GG;GG)
Alt	rs398122803(G;G) rs398122803(GG;GG)
Reference	Rs398122803(-;-)
Significance	Pathogenic
Disease	Microphthalmia syndromic 3 not provided
Variation	info
Gene	SOX2-OT SOX2
CLNDBN	Microphthalmia syndromic 3 not provided
Reversed	0
HGVS	NC_000003.11:g.181430206_181430207dupGG; NC_000003.11:g.181430207dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022771.21, RCV000346070.1,