rs587776776

Orientation

plus

Stabilized

plus

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

Make rs587776776(-;-)

Make rs587776776(-;C)

Reference

GRCh38 38.1/142

Chromosome

3

Position

181712911

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs587776776
dbSNP (classic)	rs587776776
ClinGen	rs587776776
ebi	rs587776776
HLI	rs587776776
Exac	rs587776776
Gnomad	rs587776776
Varsome	rs587776776
LitVar	rs587776776
Map	rs587776776
PheGenI	rs587776776
Biobank	rs587776776
1000 genomes	rs587776776
hgdp	rs587776776
ensembl	rs587776776
geneview	rs587776776
scholar	rs587776776
google	rs587776776
pharmgkb	rs587776776
gwascentral	rs587776776
openSNP	rs587776776
23andMe	rs587776776
SNPshot	rs587776776
SNPdbe	rs587776776
MSV3d	rs587776776
GWAS Ctlg	rs587776776

Max Magnitude

0

ClinVar
Risk	rs587776776(-;-)
Alt	rs587776776(-;-)
Reference	Rs587776776(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.181430699delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013676.25,