rs121908618

Orientation

plus

Stabilized

plus

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

Make rs121908618(C;C)

Make rs121908618(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

72007951

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs121908618
dbSNP (classic)	rs121908618
ClinGen	rs121908618
ebi	rs121908618
HLI	rs121908618
Exac	rs121908618
Gnomad	rs121908618
Varsome	rs121908618
LitVar	rs121908618
Map	rs121908618
PheGenI	rs121908618
Biobank	rs121908618
1000 genomes	rs121908618
hgdp	rs121908618
ensembl	rs121908618
geneview	rs121908618
scholar	rs121908618
google	rs121908618
pharmgkb	rs121908618
gwascentral	rs121908618
openSNP	rs121908618
23andMe	rs121908618
SNPshot	rs121908618
SNPdbe	rs121908618
MSV3d	rs121908618
GWAS Ctlg	rs121908618

Max Magnitude

0

OMIM	603799
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908618(C;C)
Alt	rs121908618(C;C)
Reference	Rs121908618(T;T)
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.73767709T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006416.3,