rs730720

Orientation

minus

Stabilized

minus

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

Make rs730720(A;A)

Make rs730720(A;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

72013004

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs730720
dbSNP (classic)	rs730720
ClinGen	rs730720
ebi	rs730720
HLI	rs730720
Exac	rs730720
Gnomad	rs730720
Varsome	rs730720
LitVar	rs730720
Map	rs730720
PheGenI	rs730720
Biobank	rs730720
1000 genomes	rs730720
hgdp	rs730720
ensembl	rs730720
geneview	rs730720
scholar	rs730720
google	rs730720
pharmgkb	rs730720
gwascentral	rs730720
openSNP	rs730720
23andMe	rs730720
SNPshot	rs730720
SNPdbe	rs730720
MSV3d	rs730720
GWAS Ctlg	rs730720

GMAF

0.3595

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs730720(A;A)
Alt	rs730720(A;A)
Reference	Rs730720(G;G)
Significance	Non-pathogenic
Disease	Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation	info
Gene	CHST3
CLNDBN	Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed	1
HGVS	NC_000010.10:g.73772762C>T
CLNSRC
CLNACC	RCV000273915.1, RCV000331224.1, RCV000355694.1, RCV000370815.1,