rs4148947

Orientation

plus

Stabilized

plus

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

Make rs4148947(C;C)

Make rs4148947(C;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

72010359

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs4148947
dbSNP (classic)	rs4148947
ClinGen	rs4148947
ebi	rs4148947
HLI	rs4148947
Exac	rs4148947
Gnomad	rs4148947
Varsome	rs4148947
LitVar	rs4148947
Map	rs4148947
PheGenI	rs4148947
Biobank	rs4148947
1000 genomes	rs4148947
hgdp	rs4148947
ensembl	rs4148947
geneview	rs4148947
scholar	rs4148947
google	rs4148947
pharmgkb	rs4148947
gwascentral	rs4148947
openSNP	rs4148947
23andMe	rs4148947
SNPshot	rs4148947
SNPdbe	rs4148947
MSV3d	rs4148947
GWAS Ctlg	rs4148947

GMAF

0.3177

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs4148947(C;C)
Alt	rs4148947(C;C)
Reference	Rs4148947(T;T)
Significance	Non-pathogenic
Disease	Larsen syndrome Spondyloepiphyseal dysplasia Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Variation	info
Gene	CHST3
CLNDBN	Larsen syndrome Spondyloepiphyseal dysplasia Skeletal dysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations
Reversed	0
HGVS	NC_000010.10:g.73770117T>C
CLNSRC
CLNACC	RCV000291634.1, RCV000302226.1, RCV000346599.1, RCV000394400.1,