rs104893801

Orientation

plus

Stabilized

plus

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

Make rs104893801(A;A)

Make rs104893801(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

181712608

Gene	SOX2, SOX2-OT

is a	snp
is	mentioned by
dbSNP	rs104893801
dbSNP (classic)	rs104893801
ClinGen	rs104893801
ebi	rs104893801
HLI	rs104893801
Exac	rs104893801
Gnomad	rs104893801
Varsome	rs104893801
LitVar	rs104893801
Map	rs104893801
PheGenI	rs104893801
Biobank	rs104893801
1000 genomes	rs104893801
hgdp	rs104893801
ensembl	rs104893801
geneview	rs104893801
scholar	rs104893801
google	rs104893801
pharmgkb	rs104893801
gwascentral	rs104893801
openSNP	rs104893801
23andMe	rs104893801
SNPshot	rs104893801
SNPdbe	rs104893801
MSV3d	rs104893801
GWAS Ctlg	rs104893801

Max Magnitude

0

OMIM	184429
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104893801(A;A)
Alt	rs104893801(A;A)
Reference	Rs104893801(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.181430396C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013664.21,