rs121918652

Orientation

plus

Stabilized

plus

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

Make rs121918652(C;C)

Make rs121918652(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712749

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs121918652
dbSNP (classic)	rs121918652
ClinGen	rs121918652
ebi	rs121918652
HLI	rs121918652
Exac	rs121918652
Gnomad	rs121918652
Varsome	rs121918652
LitVar	rs121918652
Map	rs121918652
PheGenI	rs121918652
Biobank	rs121918652
1000 genomes	rs121918652
hgdp	rs121918652
ensembl	rs121918652
geneview	rs121918652
scholar	rs121918652
google	rs121918652
pharmgkb	rs121918652
gwascentral	rs121918652
openSNP	rs121918652
23andMe	rs121918652
SNPshot	rs121918652
SNPdbe	rs121918652
MSV3d	rs121918652
GWAS Ctlg	rs121918652

Max Magnitude

0

OMIM	184429
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121918652(C;C)
Alt	rs121918652(C;C)
Reference	Rs121918652(G;G)
Significance	Pathogenic
Disease	Optic nerve hypoplasia and abnormalities of the central nervous system
Variation	info
Gene	SOX2-OT SOX2
CLNDBN	Optic nerve hypoplasia and abnormalities of the central nervous system
Reversed	0
HGVS	NC_000003.11:g.181430537G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013673.20,