rs104893808

Orientation

plus

Stabilized

plus

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

Make rs104893808(A;A)

Make rs104893808(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712931

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893808
dbSNP (classic)	rs104893808
ClinGen	rs104893808
ebi	rs104893808
HLI	rs104893808
Exac	rs104893808
Gnomad	rs104893808
Varsome	rs104893808
LitVar	rs104893808
Map	rs104893808
PheGenI	rs104893808
Biobank	rs104893808
1000 genomes	rs104893808
hgdp	rs104893808
ensembl	rs104893808
geneview	rs104893808
scholar	rs104893808
google	rs104893808
pharmgkb	rs104893808
gwascentral	rs104893808
openSNP	rs104893808
23andMe	rs104893808
SNPshot	rs104893808
SNPdbe	rs104893808
MSV3d	rs104893808
GWAS Ctlg	rs104893808

Max Magnitude

0

OMIM	184429
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893808(A;A)
Alt	rs104893808(A;A)
Reference	Rs104893808(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.181430719G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013674.23,