rs121908616

Orientation

plus

Stabilized

plus

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

Make rs121908616(C;C)

Make rs121908616(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

72007807

Gene

CHST3

is a	snp
is	mentioned by
dbSNP	rs121908616
dbSNP (classic)	rs121908616
ClinGen	rs121908616
ebi	rs121908616
HLI	rs121908616
Exac	rs121908616
Gnomad	rs121908616
Varsome	rs121908616
LitVar	rs121908616
Map	rs121908616
PheGenI	rs121908616
Biobank	rs121908616
1000 genomes	rs121908616
hgdp	rs121908616
ensembl	rs121908616
geneview	rs121908616
scholar	rs121908616
google	rs121908616
pharmgkb	rs121908616
gwascentral	rs121908616
openSNP	rs121908616
23andMe	rs121908616
SNPshot	rs121908616
SNPdbe	rs121908616
MSV3d	rs121908616
GWAS Ctlg	rs121908616

Max Magnitude

0

OMIM	603799
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908616(C;C)
Alt	rs121908616(C;C)
Reference	Rs121908616(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.73767565T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006413.3,