rs28937593

Orientation

plus

Stabilized

plus

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

Make rs28937593(A;A)

Make rs28937593(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

72007942

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs28937593
dbSNP (classic)	rs28937593
ClinGen	rs28937593
ebi	rs28937593
HLI	rs28937593
Exac	rs28937593
Gnomad	rs28937593
Varsome	rs28937593
LitVar	rs28937593
Map	rs28937593
PheGenI	rs28937593
Biobank	rs28937593
1000 genomes	rs28937593
hgdp	rs28937593
ensembl	rs28937593
geneview	rs28937593
scholar	rs28937593
google	rs28937593
pharmgkb	rs28937593
gwascentral	rs28937593
openSNP	rs28937593
23andMe	rs28937593
SNPshot	rs28937593
SNPdbe	rs28937593
MSV3d	rs28937593
GWAS Ctlg	rs28937593

Max Magnitude

0

OMIM	603799
Desc	SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
Variant	0001
Related	also

ClinVar
Risk	rs28937593(A;A)
Alt	rs28937593(A;A)
Reference	Rs28937593(G;G)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation	info
Gene	CHST3
CLNDBN	Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed	0
HGVS	NC_000010.10:g.73767700G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006412.3,