rs387906688

Orientation

plus

Stabilized

plus

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

Make rs387906688(A;A)

Make rs387906688(A;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712605

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs387906688
dbSNP (classic)	rs387906688
ClinGen	rs387906688
ebi	rs387906688
HLI	rs387906688
Exac	rs387906688
Gnomad	rs387906688
Varsome	rs387906688
LitVar	rs387906688
Map	rs387906688
PheGenI	rs387906688
Biobank	rs387906688
1000 genomes	rs387906688
hgdp	rs387906688
ensembl	rs387906688
geneview	rs387906688
scholar	rs387906688
google	rs387906688
pharmgkb	rs387906688
gwascentral	rs387906688
openSNP	rs387906688
23andMe	rs387906688
SNPshot	rs387906688
SNPdbe	rs387906688
MSV3d	rs387906688
GWAS Ctlg	rs387906688

Max Magnitude

0

ClinVar
Risk	rs387906688(A;A)
Alt	rs387906688(A;A)
Reference	Rs387906688(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.181430393T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022772.20,