rs28936703

Orientation

minus

Stabilized

minus

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

Make rs28936703(C;T)

Make rs28936703(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

57198246

Gene

HESX1

is a	snp
is	mentioned by
dbSNP	rs28936703
dbSNP (classic)	rs28936703
ClinGen	rs28936703
ebi	rs28936703
HLI	rs28936703
Exac	rs28936703
Gnomad	rs28936703
Varsome	rs28936703
LitVar	rs28936703
Map	rs28936703
PheGenI	rs28936703
Biobank	rs28936703
1000 genomes	rs28936703
hgdp	rs28936703
ensembl	rs28936703
geneview	rs28936703
scholar	rs28936703
google	rs28936703
pharmgkb	rs28936703
gwascentral	rs28936703
openSNP	rs28936703
23andMe	rs28936703
SNPshot	rs28936703
SNPdbe	rs28936703
MSV3d	rs28936703
GWAS Ctlg	rs28936703

Max Magnitude

0

OMIM	601802
Desc	SEPTOOPTIC DYSPLASIA, MILD
Variant	0002
Related	also

ClinVar
Risk	rs28936703(T;T)
Alt	rs28936703(T;T)
Reference	Rs28936703(C;C)
Significance	Pathogenic
Disease	Septooptic dysplasia
Variation	info
Gene	HESX1
CLNDBN	Septooptic dysplasia, mild
Reversed	1
HGVS	NC_000003.11:g.57232274G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008131.2,