rs12418

Orientation

plus

Stabilized

plus

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

Make rs12418(A;A)

Make rs12418(A;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

72013256

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs12418
dbSNP (classic)	rs12418
ClinGen	rs12418
ebi	rs12418
HLI	rs12418
Exac	rs12418
Gnomad	rs12418
Varsome	rs12418
LitVar	rs12418
Map	rs12418
PheGenI	rs12418
Biobank	rs12418
1000 genomes	rs12418
hgdp	rs12418
ensembl	rs12418
geneview	rs12418
scholar	rs12418
google	rs12418
pharmgkb	rs12418
gwascentral	rs12418
openSNP	rs12418
23andMe	rs12418
SNPshot	rs12418
SNPdbe	rs12418
MSV3d	rs12418
GWAS Ctlg	rs12418

GMAF

0.3145

Max Magnitude

0

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

ClinVar
Risk	rs12418(A;A)
Alt	rs12418(A;A)
Reference	Rs12418(G;G)
Significance	Non-pathogenic
Disease	Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia
Variation	info
Gene	CHST3
CLNDBN	Larsen syndrome Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia
Reversed	0
HGVS	NC_000010.10:g.73773014G>A
CLNSRC
CLNACC	RCV000261067.1, RCV000304537.1, RCV000353937.1, RCV000361562.1,