rs28936702

Orientation

minus

Stabilized

minus

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

Make rs28936702(C;T)

Make rs28936702(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

57198277

Gene

HESX1

is a	snp
is	mentioned by
dbSNP	rs28936702
dbSNP (classic)	rs28936702
ClinGen	rs28936702
ebi	rs28936702
HLI	rs28936702
Exac	rs28936702
Gnomad	rs28936702
Varsome	rs28936702
LitVar	rs28936702
Map	rs28936702
PheGenI	rs28936702
Biobank	rs28936702
1000 genomes	rs28936702
hgdp	rs28936702
ensembl	rs28936702
geneview	rs28936702
scholar	rs28936702
google	rs28936702
pharmgkb	rs28936702
gwascentral	rs28936702
openSNP	rs28936702
23andMe	rs28936702
SNPshot	rs28936702
SNPdbe	rs28936702
MSV3d	rs28936702
GWAS Ctlg	rs28936702

Max Magnitude

0

OMIM	601802
Desc	SEPTOOPTIC DYSPLASIA
Variant	0001
Related	also

ClinVar
Risk	rs28936702(T;T)
Alt	rs28936702(T;T)
Reference	Rs28936702(C;C)
Significance	Pathogenic
Disease	Septo-optic dysplasia sequence
Variation	info
Gene	HESX1
CLNDBN	Septo-optic dysplasia sequence
Reversed	1
HGVS	NC_000003.11:g.57232305G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008130.2,